ISMRD

3rd International Conference for Glycoprotein Storage Diseases 2012
2012-07-28 08:00 - 2012-07-29 17:00 (America/New_York) | Charleston, SC, United States
ISMRD’s penguin family again migrated from around the world to attend the 3rd International conference for Glycoprotein Storage Diseases held in Charleston, South Carolina USA. The meeting was jointly hosted by ISMRD and the Greenwood Genetic Center (GGC).
Natural History clinics for 30 patients were also held at GGC’s Charleston office on July 27th and 30th.
We would not have been able to present this meeting without the very generous support of the National Institute of Neurological Disorders and Stroke, The Everylife Foundation, Mercy Medical Airlift, Zymenex, Rock4Dakatah, Genzyme and Ultragenyx.

Welcome Reception

The welcome reception was full of excitement as old friends gathered together and new friends met for the first time.
Saturday
The morning sessions were a combined Scientific/Family meeting with Richard Steet opening the meeting with a presentation on an Overview of Glycoproteinoses followed by Emil Kakkis who spoke about Effective treatments for rare diseases – How do we get there.
After lunch the meeting split in two with the families moving onto their program that looked at the pathway to treatments, understanding neurological symptoms and signs. There were topics looking at dental care, eye issues, exercise for individuals with disabilities and two families gave their experiences of Bone Marrow transplant and Dental care in ML II.
To see the full conference program and abstracts click here.
A Memorial Service was held in loving memory of all those who have lost their lives to one of these diseases. The service was followed by the balloon release. All eyes were glued to the sky until the very last balloon was out of sight. The presence of so many professionals, caregivers, friends, families and their children to honor those gone before us was amazing, a very touching end to the first day.

Life Time Achievement Award
Life time awards are not something that are given out lightly – rather they are recognition of the dedication we see in those that we regard as special because they have given their life and talents to trying to seek a cure for these rare and debilitating diseases.
ISMRD was very proud to present its very first Life Time Award to Dr Jules Leroy for his dedication to Mucolipidosis through-out his whole working life.
Jenny Noble New Zealand, Sylvia Webb Australia and Nila Coley USA all spoke of his dedication, his love and the time he so willingly gives to families over the years.
Dr Leroy being a very humble man thanked ISMRD for the award and dedicated the award to those that have challenged him through out his working life, and to the families who very generously allowed him to meet and spend time with their children.

Sunday
The family program for Sunday was full of interesting topics such as, managing seizures, feeding and nutrition issues for those affected with a genetic disorder.
There was an interesting presentation on Palliative care. The presentation talked about how pediatric palliative care has forged new frontiers by recognizing that early referral and extended care by an integrated palliative care team can enhance the quality of life for children and their families when a cure is not possible. It also looked at the burdens placed on those caring for the affected patient.
Another interesting topic was Transition from from Pediatrics to adult health services and transition into the community. This presentation talked about how important it was to build a team of health professionals and community support people around the affected person so that the transition is smooth and does not cause undue stress to the family and affected person.
Lucia Horowitz talked about psychological testing and went on to explain what it all means and the how this kind of testing is useful when making important life decisions.
The meeting closed at 11.30 with the families joining the scientific meeting for final discussions.
Mark Stark President of ISMRD presented ISMRD’s future plans for supporting research and Jackie James Board member talked about how important it was for ISMRD to have support from families to raise funds so that we can support research met our administrative costs and host conferences as examples of where ISMRD needs funding support.
The meeting closed with a shared lunch.

Scientific Conference
Report for the International conference for Glycoprotein Storage Diseases – Charleston, South Carolina, USA 28th-29th July 2012 by Dr Sara Cathey
The Third International Workshop on Glycoproteinoses was held July 28 and 29, 2012 at the Crowne Plaza Hotel in N. Charleston, South Carolina. Concurrent scientific and family sessions were held during this two day meeting co-hosted by the Greenwood Genetic Center and ISMRD, the International Advocate for Glycoprotein Storage Diseases. The primary goal of the scientific meeting was to bring together rare disease experts from various disciplines. This was accomplished, and the conference achieved an unprecedented level of scientific expertise focused on the glycoproteinoses. Dr. Richard Steet (Biochemistry and Molecular Biology, University of Georgia Complex Carbohydrate Research Center) set the bar for excellence, launching the conference with his presentation “Overview of glycoproteinoses, old and new questions – looking to contemporary research for answers”. Dr. Steet described the complex cellular and molecular pathogenesis of the glycoprotein disorders, challenging us to broaden our view of these diseases. We need to focus not only on intracellular lysosomal storage but also on critical secondary effects in the extracellular matrix arising from inflammatory cascades, oxidative stress, altered calcium homeostasis, and autophagy. Dr. Emil Kakkis (EveryLife Foundation for Rare Diseases) gave an eye-opening presentation about regulatory processes and the hurdles that must be overcome for rare disease therapies to reach the marketplace. Mark Haskins (Center for Comparative Medical Genetics, University of Pennsylvania School of Veterinary Medicine) presented the latest developments from his area of expertise, therapy for human genetic diseases in large animal models. These first three talks built the framework for many discussions, all with the ultimate goal of answering this question: How can we treat these diseases?
Pathogenesis of the glycoproteinoses and the implications for therapeutic interventions were further explored by eminent scientists. Stuart Kornfeld (Washington University School of Medicine) explored mannose 6-phosphate dependent trafficking from the molecular level of the critical phosphotransferase enzyme. Roberto Zoncu (Postdoctoral Fellow in the laboratory of David Sabatini, Whitehead Institute for Biomedical Research) discussed the lysosome as a key organelle for metabolism and presented his research of the mTOR complex 1 protein kinase, a master growth regulator activated by amino acid signals from within the lysosomal lumen. Peter Lobel (Center for Advanced Biotechnology and Medicine, Rutgers University) discussed lysosomal proteomics, explaining both the “disease to protein” and “protein to disease” approaches for disease discovery and development of protein-based therapeutics. William Sly (Endowed Chair in Biochemistry and Molecular Biology Saint Louis University) presented the topic of targeted therapeutic proteins. He discussed glutathione receptor targeted liposomes to deliver drug to the brain and maintain the neuroprotective function of the blood-brain-barrier. David Bedwell (University of Alabama at Birmingham) presented nonsense suppression therapy.
Jon Davids (Shriners Hospital for Sick Children, Sacramento) talked about the skeletal manifestations of the glycoproteinoses and set the stage for two talks exploring the bone disease of mucolipidosis II and III. From the patient bedside perspective, Jules Leroy (Former Professor and Chairman of Pediatrics Ghent University, Belgium) covered prenatal, early and late skeletal features of ML. From the laboratory bench perspective, Dr. Steet discussed the role of excess cathepsin K in cartilage defects in a zebrafish model of ML II.
Troy Lund (Pediatric Hematology, Oncology and BMT, University of Minnesota) presented a comprehensive overview of hematopoietic cell transplant in the glycoproteinoses. Rosanne Taylor and Jessica Fletcher presented the pathophysiology of fucosidosis and enzyme infusion therapy in canine fucosidosis. Dr. Taylor’s work on fucosidosis dogs led to the first bone marrow transplant for human fucosidosis. Alessandra d’Azzo, (St. Jude’s Children’s Research Hospital) presented the status of gene therapy for galactosialidosis and the post-doctoral fellow from her lab, Shai White-Gilbertson, discussed the role of neuraminidase 1 in lysosomal exocytosis and disease pathogenesis. Line Borgwardt (Copenhagen University Hospital, Denmark) presented the early results of European trials of enzyme replacement for alpha-mannosidosis. Miao He and Ali Pervaiz from Emory University discussed high resolution urinary oligosaccharide analysis by MALDI-TOF mass spectrometry and the use of this testing in the diagnosis of aspartylglucosaminuria in one of their patients. Tim Wood (Biochemical Genetics Laboratory at Greenwood Genetic Center) explored the very rare disorder known as Schindler disease and the unique properties of alpha-N-acetylgalactosaminidase (NAGA enzyme).
All presenters and attendees benefited from the thoughtful discussions and questions inspired by the conference. Prior to closure of the conference, the timing of the next International Workshop on Glycoproteinoses was discussed with the entire group. The expectation is that a similar meeting will be useful and necessary within three years.
Third International Workshop on Glycoproteinoses Speaker List
David Bedwell, Ph.D. – University of Alabama at Birmingham, Birmingham, Alabama
Line Borgwardt, M.D. – Copenhagen University Hospital, Denmark
Nila Coley – Cedartown, Georgia
Alessandra d’Azzo, Ph.D. – St. Jude Children’s Research Hospital, Memphis, Tennessee
Ron R. Davids, M.D. – Shriners Hospitals for Sick Children, Sacramento, California
Jessica Fletcher – The University of Sydney, Australia
Mark Haskin, V.M.D., Ph.D. – University of Pennsylvania, Philadelphia, Pennsylvania
Miao He, Ph.D. – Emory University School of Medicine, Decatur, Georgia
Lucia Horowitz, Ph.D. – Greenwood Genetic Center, Greenwood, South Carolina
Emil Kakkis, M.D., Ph.D. – Every Life Foundation for Rare Diseases, Novato, California
Stuart Kornfeld, M.D. – Washington University School of Medicine, St. Louis, Missouri
Dawn Jacob Laney, MS, CCRC – Emory University School of Medicine, Decatur, Georgia
Jules Leroy, M.D., Ph.D. – Greenwood Genetic Center, Visiting Senior Scholar from Belgium
Peter Lobel, Ph.D. – Rutgers University, Piscataway, New Jersey
Troy Lund, Ph.D., M.D. – University of Minnesota, Minneapolis, Minnesota
Marc C. Patterson, M.D. – Mayo Clinic, Rochester, Minnesota
Muhammad Pervaiz, M.D. – Emory University School of Medicine, Decatur, Georgia
Joseph B. Ryan, Ph.D. – Clemson University, Clemson, South Carolina
Carlos F. Salinas, D.M.D. – Medical University of South Carolina, Charleston, South Carolina
Ida Vanessa Doederlein Schwartz, M.D. Ph.D. – Federal University of Rio Grande do Sul, Brazil
William Sly, M.D. – Saint Louis University School of Medicine, St. Louis, Missouri
Richard Steet, M.D. – University of Georgia, Athens, Georgia
David M. Steinhorn M.D. – Ann and Robert H. Lurie Children’s Hospital, Chicago, Illinois
Ronald Teed, M.D. – Children’s Eye Specialists, Charleston, South Carolina
Rosanne Taylor, Ph.D. – The University of Sydney, Australia
Melinda Whetsell, MS, RD, LD – Greenwood Genetic Center, N. Charleston, South Carolina
Shai White-Gilbertson, Ph.D. – St. Jude’s Children’s Research Hospital, Memphis, Tennessee
Tim Wood, Ph.D. – Greenwood Genetic Center, Greenwood, South Carolina
Roberto Zoncu, Ph.D. – Whitehead Institute, Cambridge, Massachusetts

Children and Youth Program

On Saturday the activities got under way early! By 8.30am our young men and women had gathered in front of the hotel, awaiting the charter bus that would take them to the South Carolina Aquarium.
A short ride brought us to the Aquarium, which sits right on Charleston’s harbor. We split into two groups and the fun began. The 4D movie experience took us to the Arctic from the view of the sea life. We were misted with water, “things slithered around our legs’ and punched our seat backs, and there was even a bit of a stinky fish smell!
Afterwards, we were given a tour of the Turtle Hospital, which has almost a dozen ‘patients’ in small rehab tanks. The whole group then toured the Aquarium proper; fish, reptiles, amphibians, and birds!
One of the major highlights of the day was the classroom time. The wonderful Aquarium staff brought out turtles, lizards, snakes and even a small alligator for everyone to see and touch.
By mid day stomachs were grumbling so it was time to stop and have a great deli lunch (some even ate two!!).
The day wasn’t over as we headed to the Children’s Museum for a short visit. Most of the group enjoyed the hands-on experience there, while others were happy to sit and socialize with each other.
Soon it was time to return to the hotel. With Kevin, Carl and the driver Mike handling the loading/unloading duties, the tired but happy group was soon back at the hoteleager to tell their families about their exciting day’s experience.
We mustn’t forget all the wonderful volunteers who came to support our children and adults during their activities. Without this very generous support we would not have been able to provide such an exciting program. Thank you everyone who assisted us.

Personal Reflections

Three days before the conference I felt an emotional Tsunami engulfing me (by Trish Adkins, Mucolipidosis II Parent- USA)
My son Jamie was diagnosed with I-Cell disease in 1975 and gained his wings May 22, 1977. I have lived in a cocoon ever since. Having tried twice to join support groups for grieving parents, I never made it past the first meeting. I have never met or spoken with, much less interacted with, a family who had a child with Mucolipidosis until I found the I-Cell and ISMRD groups through Facebook. When I read of the ISMRD conference in South Carolina, I quickly booked my room and registered months in advance to attend. Three days before the conference I felt an emotional Tsunami engulfing me, so I considered cancelling my trip. However, having committed to Jenny Noble to photograph the conference, I knew deep down that backing out was not an option; attending this conference was about more than me. Two days before the conference began, I checked in and skirted the motel avoiding those I recognized from pictures I’d seen on the ISMRD Web and Facebook pages. The night before the ISMRD board’s luncheon, which I had been invited to attend, a picture was posted on the ISMRD Facebook page. There they were, everyone I had seen but not spoken to, sitting in the motel restaurant having dinner. I knew it was now or never. I picked up my camera, headed downstairs, walked up to the table, and took my first photo. With one click of the shutter I began the most incredible four days of my life.
Families and speakers registered Friday night and the excitement began as old friends reunited and new friends met. The enthusiasm continued Saturday morning as most of the children were paired with a Buddy and loaded onto a bus headed out for a day of adventure at the Aquarium and Children’s Museum.
As the buses pulled away, the sessions began. Everyone in attendance — professionals, parents, family members and friends — had one objective: to share and gather as much information as possible about Glycoprotein Storage Diseases. Between the Scientific and the Family Programs, over thirty topics were presented covering a broad range of subjects. During the breaks one could feel the synergy as conversations continued. Doctors and other researchers made themselves available to converse with all, especially parents.
The Memorial Service followed by the balloon release was a loving remembrance of the children who have gained their wings. Eyes were glued to the sky until the very last balloon was out of sight. The turnout was amazing. The presence of so many professionals, caregivers, friends, families and their children cannot be put into words for those of us who no longer have children with us.
For me the highlight of the conference came after the conference was officially over. I was sitting alone in a remote corner when Dr. Jules Leroy, known for being the first to describe the more severe form of Mucolipidosis and naming it I-Cell disease, approached and asked if he could join me. For the next ninety minutes we shared life experiences and laughs with most of our conversation revolving around Mucolipidosis. Taking as much time as I needed, he answered my questions in layman terms and explained the broad range of differences and similarities of ML II, MLII/III and MLIII. As he told me of other children, it was if they were his own, “one child from Spain”, “another child from Japan.” He seemed disconcerted that my son was one of the first to be diagnosed with I-cell but that his medical information (as far as he could remember) had not been forwarded to him. Emphasizing over and over the importance of family studies and data collection, he was genuinely interested in all aspects of my child’s life, from birth weight to our skin grafts to everything in-between giving me a list of medical information he would find useful to add to his data collection. There I sat thirty-five years after my son’s death and his life mattered.
On the way to the conference I had wondered – would I have put myself and my child through the family history study where he would have been poked and prodded, stuck with needles, and forced to be examined by numerous professionals? Could I have withstood the endless questions about my child and his limited abilities? Was it possible for me to endure four days with families I had never met and do more than shed tears? Would I be able to understand any of the topics being discussed?With every picture I took, session I attended, person I met, balloon I released, and tear I shed, I slowly began to break through the cocoon I had been in for thirty plus years. I have emerged as someone who not only believes in the importance of Family History Study and medical/family conferences, but also as one who wants to do my part in assisting the medical field to find a cure for all Glycoprotein Storage Diseases.

Thank you ISMRD (by Adian Trestianu Mucolipidosis II Parent – Italy)

In the first place I want to thank ISMRD for what they have done for us. I am very very grateful for the help you gave us to attend the ISMRD conference.
The conference means a lot for us. It was a great opportunity to learn more about my daughter’s disease and about how to manage her health. Dr.Cathey and her team are the most wonderful doctors that I have ever met. They are very good specialists and they teach me so many things. Dr. Leroy was great, a great name of the medical world. With their help I started to know better my daughter’s disease and I am feeling better prepared in fighting with ML2.
I have trust that someday these great doctors will find a cure for this destructive disease.
I have met so many wonderful people and families there and made so many connections and life long friendships. Now I know that I am no longer alone and that there are great people around me, even if we are so far apart. Thank you so much ISMRD for your very generous support in getting us to Charleston.
It was beautiful there in South Carolina and I am very glad that I could attend to this conference.

Isolation Broken (by Birthe and Truls Roll Mucolipidosis III Parents – Norway)
It is not easy to describe the impressions and the feelings we are left with having participated in our first ISMRD conference. As many of you already know, it is all pretty new to us, as Pernille was diagnosed in late march this year. We are still getting used to the idea and the fact that Pernille’s future will be different, challenging, and also painful and hard for her.
Since there are no other people with ML III diagnosed in Norway or Scandinavia – that we know of, the knowledge in this field in the healthcare system and among doctors here is very poor. We all had to go online and read as much as we could find. As a family we were very unsure of what we would hear and see as we began our long journey to Charleston this summer.
After coming home again and processing all of our information and impressions, we are left with a greater understanding about this disease. We learned so much about ML some of it good and some of it not so good. We now have knowledge and understand more about what is happening in Pernille’s body. We know that her development will be slow and understand the future challenges she and we together will face. Although each child with this disease is unique and the disease may and often does proceed differently from person to person, there are a lot of things we see in common.
With the knowledge we now have, we can inform our doctors here at home about what will happen and what areas they need to follow carefully. This will help her future. Besides the knowledge and ability to meet with the premier experts in this area we also established good friendships with other affected children and their families which we truly appreciate. Being able to talk with others who have been in this position longer than us and who can provide advice and support is just overwhelming and fantastic. We would again like to thank Jenny Noble for inviting us to this conference to meet the rest of the ISMRD family and to thank everyone for welcoming us in. We hope to keep in touch through email and facebook. We will see you all again at the next conference!
With Love, Birthe and Truls Rolls

First conference of this kind for me (by Julia Taravella Aspartylglucosaminuria Parent USA)
I got my kid’s diagnosis a month before the conference and was pretty devastated. The conference was very beneficial for us to understand the disease and to connect with other families.
It was great to meet and talk to doctors, exchange experiences with families and discuss option and hopes for rare disease treatments and cures. The conference was very well organized, the location was great, and overall it was a great success.
Unfortunately there are not many resources available for rare diseases. This was the main contributing factor in my struggle to get the children’s diagnosis that lasted over 15 years. Conferences, natural history clinics, interactions with medical professionals will all help future families identify and deal with these diseases.
It was very good to see people from different countries that visited the conference. It is only working and collaborating together will we be able to find a cure. There are several similar organizations around the world putting together conferences for Lysosomal storage disorders, all of them presenting highly valuable information. Three of them were organized within one month. That would be my suggestion for the future is to co-ordinate conferences in the different parts of the world and spread them apart in time.
Julia Travella

Loneliness broken by ISMRD family (by Smith Lambert, Sialidosis affected adult)
To the ISMRD family,
There are no words to depict, distinguish, draw, identify, or even describe the help that ISMRD facilitated for me. You have no idea the place of loneliness I felt with this disease. And no, I am not talking self-loneliness because I feel loved by family, friends, and especially my wife everyday. However, to know that you had the mobility to do whatever you pleased and for it to be vanished from you without knowing why or the reason, it is sadly heartbreaking. What was even more heartbreaking, not only did people not know of the disease in my circle of doctors but they didn’t care to do much about it.
I actually started losing hope and started accepting the fate I would face in the upcoming years. Even if that meant me being disabled from head to toe, losing my vision, or even worse. I was starting to accept my fate and accept what God would present me in life. I hate comparing diseases cause none are the same. But if I can make a comparison some days and some nights I felt like I had stage four cancer and was just waiting the the day. I had really reached that point.
However, ISMRD made me feel like I had HOPE. ISMRD made me feel not alone anymore. ISMRD made me feel I had another family, and with that, I honor that with great gratitude. And with that great gratitude, I am taking a new approach. I will fight this disease to the bitter end. I will not let it defeat me, destroy me, or put me down. I will now only rise to the occasion knowing I am truly blessed. More importantly, I feel like I need to fight this disease for all the other families suffering from this rare disease. I think it all starts with one person and I feel like now, why cant that one person be me.
ISMRD you are truly a blessing and you have no idea how much. From the ISMRD board, researchers, doctors, and the families suffering – YOU ARE INCREDIBLE. I BOW DOWN AND APPLAUD YOU FOR EVERYTHING YOU HAVE DONE!
Smith Lambertson – Sialidosis affected adult.

4th Glycoproteinoses International Conference – Advances in Pathogenesis and Therapy
2015-07-23 08:00 - 2015-07-26 17:00 | Hilton at the Ballpark, St Louis, MO, United States
After two years of fundraising and planning the 23rd July was suddenly upon us. Families, Professionals, Researchers, Scientists and Clinicians from around the world began to gather in St. Louis for what would be the largest conference ISMRD has ever delivered.
Countries represented were: Australia, Canada, Norway, Italy, Spain, New Zealand, Belgium, Brazil, Germany, USA, United Kingdom, France, Finland, Sweden and Ireland which gave us a total of 180 delegates.
Download the conference book for the abstracts.
ISMRD is very grateful for the very generous support from the following sponsors, as well as The Prenille Foundation, Edward Mallincdrodt Foundation, and Mark Haskins.

Scientific Program
This year’s scientific program brought together speakers and attendees from around the globe to present research on the genetics, pathogenesis and treatment of glycoproteinoses. These talks highlighted a continued shift in the field towards pathogenesis and therapy, and provided a more complete understanding of how different patient mutations affect enzyme function and how these enzyme defects cause pathology in affected tissues. The meeting commenced with an outstanding keynote lecture from Dr. William Sly, who provided a wonderful historical perspective on lysosomes and mannose 6-phosphate dependent targeting of lysosomal enzymes. Dr. Sly also shared his experience with GUSB deficiency and how the study of this disorder has moved from the bench to bedside. Translating basic science into tangible therapies for the glycoproteinoses represents the ultimate goal of researchers in this field. The meeting continued with a series of talks on the regulation of lysosomes and how defects in lysosomal function impact different tissues. Dr. Rosa Puertollano discussed the identification of new genes that promote lysosomal formation and function and how increasing the expression of these important transcription factors can induce cellular clearance of storage material. Dr. Babak Razani then spoke about the factors controlling lysosome formation and how these factors can be protective against atherosclerosis (hardening of arteries) through their ability to boost the turnover capacity of macrophages. Dr. Ana Maria Cuervo gave an excellent overview of another process involving lysosomes called chaperone-mediated autophagy and how this process contributes to the cellular response to different types of stress. Together, these lectures highlight the growing relationship between lysosomes and many vital functions within cells. In the next set of talks, we heard from Dr. Karin Ollinger who talked about lysosomal-mediated cell death and how changes in the permeability or “leakiness” of the lysosomal membrane affect this process. Dr. Steve Walkley shared a stimulating perspective on the neurological dysfunction associated with lysosomal storage disorders and discussed the importance of distinguishing these symptoms as developmental or degenerative. His talk highlighted the complexity of how lysosomal storage affects the function and survival of neurons and the importance of early therapeutic intervention.
This opening session was followed by two talks from speakers whose work has focused on alpha-mannosidosis. Dr. Dag Malm gave an informative overview and summarized the findings of his natural history of this disease. He also gave a promising update on the use of enzyme replacement therapy for this disease. Dr. Pirkko Heikinheimo spoke next about the characterization of several mutations found in alpha-mannosidosis patients and how these different mutations alter the function or properties of the enzyme. Categorizing the different mutations from a biochemical standpoint is important since it helps predict the significance of novel mutations and may also be informative for mutation-specific therapies. Dr. Alessandro D’Azzo spoke next about sialidosis, providing an overview of the disease and discussing the ways in which NEU1 deficiency alters processes in the cell including lysosomal exocytosis. Dr. D’Azzo also shared exciting new findings that relate NEU1 function to other diseases such as Alzheimer’s disease and cancer. The next two talks by Dr. Steven Gray and Dr. Rosanne Taylor provided updates on valuable animal models for AGU and fucosidosis. Dr. Gray shared an overview of the phenotypic characterization of the AGA knockout mouse and discussed the possibility of using gene therapy that directly target the brain to treat this disease. Dr. Taylor spoke about a variety of therapy options for fucosidosis as well as various concepts such as early stage neuroinflammation as mediators of pathogenesis. Her talk also highlighted the importance of large animal models for glycoproteinoses for testing the different therapies.
The following day of talks highlighted progress on mucolipidosis II and III as we heard from speakers who covered topics ranging from the molecular study of specific ML mutations to the pathogenic cascades in affected tissues such as the bone and heart. The session began with a presentation from Dr. Sara Cathey on the natural history of MLII and MLIII. Dr. Cathey discussed features of the cardiac and skeletal disease in ML patients and shared some information regarding the unique clinical features of certain ML genotypes including the K4Q. In the next talk, Dr. Stuart Kornfeld discussed recent work from his lab that has provided new insight into how specific ML mutations affect the function of the phosphotransferase enzyme. This investigation has lead to an important understanding of how the different domains of this enzyme act in a concerted manner to facilitate the addition of mannose 6-phosphate tags on different lysosomal hydrolases. Dr. Kornfeld also shared new insights into the function of the gamma subunit of phosphotransferase and how it associates with the alpha/beta subunits. In the next talk, Dr. Thomas Braulke provided a stimulating talk on ML pathogenesis by discussing findings in the brain and skeletal system of an MLII mouse model. Dr. Braulke discussed how the loss of mannose 6-phosphate biosynthesis affects bone forming (osteoblasts) and bone degrading (osteoclasts) cells differently. He also presented findings on how the sorting of lysosomal enzymes differs in MLII B and T cells and how effects on B cells in particular can result in altered antigen processing and antibody production. Dr. Heather Flanagan-Steet continued this session by sharing new insights into the cartilage and cardiac pathogenesis of MLII gained from the study of a zebrafish model for this disease. She discussed how secreted cathepsin proteases in MLII alter the signals needed for normal cartilage development. Blocking the activity of these cathepsins can reduce the pathogenesis in both the cartilage as well as the heart. The session finished with a talk by Dr. Terra Barnes about the connection between mutations in the enzymes of the Man-6-P biosynthetic pathway and persistent stuttering. Dr. Barnes work highlighted the use of new technology to monitor vocalizations in mice and how this process is affected in the context of MLII. Collectively, these talks reinforce the remarkable advances in ML research that have been made in the last five years.
In the final scientific session of the meeting, we heard several talks about advances in therapy for lysosomal diseases. The first speaker Dr. Kathy Ponder discussed the use of central nervous system-directed gene therapy for MPSVII. AAV gene therapy vectors carrying the normal copy of the GUSB gene were delivered into the spinal fluid of MPSVII dogs and resulted in impressive correction of storage. Dr. Fatima Bosch continued this theme with a talk about the use of gene therapy to treat MPSIII. Her results also support the utility of injecting gene therapy vectors into the spinal fluid as a viable treatment option for LSDs. The next speaker was Dr. Dao Pan who discussed how modifying therapeutic enzymes with different protein domains may help them get across the blood-brain barrier (BBB). The BBB represents a major obstacle to enzyme replacement therapy since enzymes given in the bloodstream are not able to reach the brain. Dr. Ida Annunziata
Written by Richard Steet and Stuart Kornfield.

Family Conference
The family program was broken up into workshops which allowed families to attend parts of the Scientific program that related to their particular disorder.
Report from the Mucolipidosis Workshop
The theme for this workshop was about how to manage the various symptoms of ML and although the topics were not new for families who have been around for a while they are very relevant as technologies improve and better ways are found to manage this complex condition. This workshop was presented in an informal manner allowing families time to ask questions and personally speak to some of the professionals.
The Mucolipidosis workshop began with Dr Leroy from Belgium giving an overview of Mcuolipidosis. He talked at length about how ML II and ML III are the same disorder.
We then heard from Dr Michael Kelly who talked about the spinal issues in ML. One of his comments was that there is very little information in the literature and that it would be useful to get some of the surgeries and techniques used written up and published. This was a hugely important statement and now gives ISMRD a way forward in trying to get the clinical guidelines for ML written up and published.
Richard Morbey from New Zealand gave an interesting presentation on upper limb issues.
Dr Michael White from St. Louis gave a presentation on possible new treatments for Bone disease in Mucolipidosis and is keen to follow up on the work already done by Tim Cundy and David Sillence on the use of Pamidronate.
Nick Pietris gave a wonderful presentation on Cardiac issues in ML looking at what to look out for and how best to treat some of the symptoms
There were presentations on Schooling issues and Obsessive Compulsive Disorder (OCD) this topic saw many parents get fully involved in this topic as many ML children display OCD in different ways and can be very challenging for parents.
Report from the Alpha Mannosidosis, Fucosidosis, Sialidosis, AGU workshop
The workshop on the morning of Day 2 of the conference included very informative and interesting talks on neurological symptoms of our diseases, a summary of knowledge of Fucosidosis, experiences with cell transplants, new developments in therapies, and discussion of education issues. A notable theme in the discussions was the advances not only in understanding and managing many symptoms of the diseases, but also the great momentum that is occurring in development of therapies. There are many different therapeutic options being explored, with many of them now in or very close to clinical trial phase.
The workshop was run with a nice intimate feel to it, enabling families to ask questions and talk to the presenters in a nice and relaxed atmosphere, away from the more formal setting of the main scientific presentations. This added to the good feelings derived from the positive discussions about emerging therapies, which was a major theme of the whole conference too.

Life Time Awards
During the Gala Dinner ISMRD presented two Life Time Achievement Awards. These awards are given in recognition of the dedication we see in those that we regard as special because they have given their life and talents in trying to seek a cure for these rare and debilitating diseases.
ISMRD was very proud to present two awards this year with the first one going to Paul Murphy for the work he did in the early days of the development of ISMRD.

The second award went to Mark Haskins who worked with the animal models of Lysosomal Storage Disease at the Philadelphia research centre. Mark is now retired but we are sure he will still be involved in someway

ISMRD also presented a Patient Advocate Award to John Forman who has spent most of his working life advocating for families affected by these diseases. John was unable to join us in Rome but joined us by Video.

Children's Program
The children’s program began on Friday with a visit to the St. Louis Zoo. We sent out 75 children/siblings and their carers for a day filled of fun and laughter. The buses were loaded at 8.30am for a 15-minute drive to the zoo, where everyone was broken down into smaller groups to begin exploring the Zoo.
After their day of fun and visiting the animals, train rides and a very hot day, very tired and happy children and their carers returned to the hotel at 4.30pm. Each child came home with a soft toy a memento of their visit to the best Zoo in the world.

Day two of the children’s program was broken down into three different parts. Children under 15 years of age stayed in the childcare room and were entertained by an Art Therapist and Story telling They also had a visit from Elsa from Frozen and Captain America from the Avengers. What excitement there was when the entertainers were seen coming down the hallway. The smiles and shouts of glee were truly heart melting.
For the older girls 15 years and above there was a pampering session where they got their nails painted and had their hair done ready for the Gala Dinner that evening. We think some of the younger girls also snuck in and got their nails painted. A posh morning tea was donated by the London Tea Shop. The older boys 15 years and over went on a tour of the Ballpark museum.

That evening we hosted our Gala Dinner, where we thanked all our wonderful speakers and presented our Life Time achievement awards, to those who have spent their entire life working in the field of research and advocacy, for Lysosomal Storage Disorders. And – to make sure the children were not left out they had their very own carnival night, where we had face painters, balloon twisters and so much more. Again, the excitement, smiles and laughter was a sight to be seen.
Sunday was a very slow day but the children were visited by Darth Vader and his friends.

The children had the time of their lives and we hope they will have lasting memories of their visit to St. Louis.
ISMRD is very grateful to the Pernillie Foundation who provided funding for the Children’s program and scholarship funding for families who needed a little bit of additional assistance.

Personal Reflections

Shirley and Sam Jamal reflect on the opportunity to meet families affected by Mucolipidosis
Amanda Gertner talks about her experience of attending the conference

5th Glycoproteinoses International Conference – Embracing Innovation – Advancing the Cure
2017-11-01 08:00 - 2017-11-04 17:00 | Hotel A. Roma Lifestyle, Rome, Italy
The 5th Glycoproteinoses Conference, brought basic scientists and clinicians from around the world to Rome, Italy, to share with patients and their families the latest discoveries. This year’s Conference was special in many ways. It was the first to be held in Europe, with the intent of strengthening connections among affected families around the globe and to strengthen our connections with other support groups in Europe.
ISMRD was honored and thrilled to have the Italian MPS Society helping us in the early stages of planning of the children’s program. Sara Pensa the Vice President and Luciano Catozzi and ML family member ensured we got to see many possible activities for the children. We thank them both so very much for their help.
Countries represented were: Australia, Norway, Italy, Spain, New Zealand, Brazil, Germany, USA, United Kingdom, France, Austria, Saudi Arabia, Denmark, Netherlands, Algeria, Slovenia, Sweden and Ireland, which gave us a total of 175 delegates.
You can download the conference book here
ISMRD gives a very special thank you to the following organization and companies who have very generously given donations to support the 5th International conference on Glycoproteinoses.
The Wagner Foundation
ISMRD is very grateful for all the help and support that Symposia gave us in the organization of our Conference and all the on-the-ground support in Rome.

Scientific Conference Report
Following the trend of past conferences, the 5th Glycoproteinoses Conference, brought basic scientists and clinicians from around the world to Rome, Italy, to share with patients and their families the latest discoveries.This year’s Conference was special in many ways. It was the first to be held in Europe, with the intent of strengthening connections among affected families around the globe, so that everyone will be more informed and supported. This goal was achieved successfully, also because for the first time the scientific program included presentations from patients and family members. This initiative turned out to be particularly inspiring for the scientist, the clinicians, as well as for the patients and their families.
Each scientific session began with introductory lectures on other lysosomal storage diseases (LSDs) and then focused on a specific group of glycoproteinoses. Overall the Conference gave new insights into the current status of the research on glycoproteinoses and the translation of these studies to the clinic; it also emphasized the role of the lysosomal system in basic cellular processes that might parallel clinical conditions seen more frequently in adults .
Dr. Stuart Kornfeld opened the Conference with a beautiful keynote address that provided a historical perspective on glycoproteins and glycoprotein-storage diseases. Dr. Fran Platt then described the involvement of the cytoskeletal network in impaired phagocytosis of macrophages in Niemann-Pick type C disease, broadening our understanding of its pathogenesis. Day 1 continued with two sessions: one dedicated to α-mannosidosis and another focused on mucolipidosis II and III(MLII and MLIII, respectively). Dr. Dag Malm delivered a comprehensive, historical overview of α-mannosidosis. Dr. Sara Cathey then introduced a novel diagnostic method that labels and quantifies oligosaccharides in glycoproteinoses. Dr. Tommaso Beccari spoke about the lysosomal and plasmatic forms of α-mannosidase and summarized results of enzyme-replacement therapy (ERT) in a mouse model of the disease. Dr. Line Borgwardt reported the current status of a clinical trial for Valmanase alfa, the human recombinant α-mannosidase being tested as a potential ERT. Dr. Troy Lund gave an overview of hematopoietic cell transplantation in patients with glycoproteinoses, and the session closed with an interesting report by Dr. Balraj Doray, who described an engineered Glc-NAc-1 phosphotransferase that enhances the secretion of lysosomal enzymes.
Session II was opened by Dr. David Wenger, who presented encouraging results on treating Krabbe disease in the Twicher mouse with bone marrow transplantation and cerebral injection of an adeno-associated virus vector expressing the therapeutic enzyme. Dr. Thomas Braulke described impaired B-cell to plasma-cell differentiation and dysfunctional osteoblasts in an MLII-knockin mouse model. These findings were complemented by Dr. Heather Flanagan-Steet’s presentation on a zebrafish model of MLII, which presents with severe dysmorphic chondrocytes due to upregulation of TGFβ. Dr. Richard Steet then described a novel approach to labeling sialylated plasma membrane proteins in GNPTAB-null cells that uncovered changes in numerous glycoproteins, including multiple receptor tyrosine kinases, suggesting that impaired lysosomal targeting can impact the activity of key growth factor receptors. Dr. Enrico Moro showed results in zebrafish models of Gaucher disease and iduronate sulfatase deficiency, which have enabled the identification of the cellular pathways affected by the enzyme deficiencies. Dr. Allison Bradbury described the well-established center for large animal models of human genetic diseases [at the University of Pennsylvania (Philadelphia, PA)]. She emphasized the importance of using large animal models to test gene therapy and its effectiveness in ameliorating disease progression. Finally, Dr. Lin Liu closed Session II by presenting the BioID method and describing the association of the COPD subunit of the coatomer with the N-terminal portion of GNPTAB, which is required for proper localization to the Golgi.
On Day 2, Session III focused on sialidosis and galactosialidosis. The presentations provided a breadth of information, from studies of disease pathogenesis and links to adult diseases, to the development of new therapies and diagnostic methods. Prof. Generoso Andria opened the Session by highlighting landmark studies that led to the discovery of protective protein/cathepsin A (PPCA) as the primary defect in galactosialidosis. Dr. Alessandra d’Azzo provided an overview of the molecular pathophysiology of sialidosis and its connection to aging. Dr. Noelia Escobedo described defects in lymphatic pathways in the mouse model of sialidosis and their potential implications in neurodegeneration, and Dr. Ida Annunziata described mechanisms regulating lysosomal function. Dr. Vish Koppaka presented encouraging results from preclinical studies of recombinant PPCA therapy for galactosialidosis. Dr. Laura Canafoglia explained the different forms of myoclonus in sialidosis by using electroencephalographic approaches and differential therapy determined by diagnosis. Finally, Dr. Amelia Morrone presented the full array of diagnostic tests used to identify LSDs and their potential pitfalls.
The last day started with an introductory lecture by Prof. Renzo Guerrini who underlined the connection between lysosomal storage disorders and myoclonus epilepsy, a recurrent clinical complication in several glycoproteinoses. Session IV focused on Aspartylglucosaminuria, Fucodisosis and Schindler disease. Dr. Ritva Tikkanen conveyed a promising personalized therapy for AGA based on the use of betaine and an FDA-approved undisclosed substance. Dr. Xin Chen showed promising preclinical results using an adeno-associated virus approach that rescues behavioral phenotypes in a mouse model of AGA. Dr. Torben Lübke then detailed his development of the first mouse model of fucosidosis that faithfully recapitulates the human disease and an attempt to perform ERT with the missing enzyme. Dr. Matthew Ellinwood described the effect of ganglioside synthesis in the context of a Galnac transferase/AGA double-knockout model and its profound impairments in neuronal and glial interactions. Dr. Ida Schwartz presented a complex case report of a patient with MLIII in Brazil. Finally, Dr. Cinzia Bellettato, on behalf of Dr. Maurizio Scarpa, discussed the establishment of MetabERN, a unified registry for the European Reference Network.
Although reports about recent basic, translational, and clinical discoveries were fascinating and full of promise, the most invigorating and moving talks were given by patients and their families. Dr. Malm, Jenny Noble, Paul Wagner, Daniel and Faith Peach, and Jean and Paul Leonard talked about living with these diseases, their daily struggles, their faith in the scientists, and their hope for future treatments. The Conference closed with the motto, “Embrace and Endure,” and an arrivederci until we come together again in Atlanta, Georgia, for the 6th Glycoproteinosis Conference in 2019.
Alessandra d’Azzo, Scientific Chair

Family Program Report
Jackie James President of ISMRD reports on the meeting and the benefits to families who attended
For me, this conference was one of the most exciting meetings we had the pleasure to set into motion. Although we had held several very successful conferences in the U.S.A., we were very excited to hold our very first ISMRD conference in Europe!
Rome is a beautiful city, full of history and culture. Our hotel, The A.Roma lifestyle hotel was perfect as our venue as it was completely accessible to wheelchairs. They were able to provide us with thirteen rooms that not only had a regular bathroom, but a handicap accessible bathroom at the same time. They were also able to offer us more than adequate conference facilities and their helpfulness and great pleasure of hosting us was more than appreciated. This also marked a first for us as we used an event provider. Symposia, which is based in the heart of Rome were an agency that we not only relied on to provide us with just about every part of getting this meeting set up, but followed through and worked alongside us at the conference. Patrizia Pasolini, Federico and team were beyond professional and were truly a tremendous asset to ISMRD.
We were very excited to meet several families for the very first time, and see some families that we had not seen in some time. Most of the families that attended were from Europe, although we did also have families from the USA, Australia, New Zealand, and Saudi Arabia as well. We also had many faces of the scientific field that we have known over the years attend, but again it was exciting to meet new faces too!
If I were to be asked what I took from the conference to be the most meaningful, I would have to say that there was more than one. Many of the new families that attended were overwhelmed. They had been given a dire diagnosis and told to live their lives as best as they could but there was no hope. These families were scared of what the future held, and obviously having to face the fact that they would see their children suffer and most likely die in their lifetime. This conference to them was a lifeline. I can very much relate to how they were feeling as I felt much the same back in 2004 when I attended the very first ISMRD conference.
It completely amazed me that within the last two years, so much has happened in the research field for the diseases ISMRD covers, along with many other storage diseases. For the first time there is actually hope to give these families. ERT is now possible for Alpha Mannosidosis, and AGU. Gene therapy research is underway for Mucolipidosis as well as some progressive research being conducted in regard to bone pain.
Even though some of the scientific conversations were difficult to always understand, it was evident that the research world is moving fast in order to help these very rare disorders, which is so very encouraging to me – and to each and every family.
I would say, one of the most meaningful moments was when some of the families got up to share their stories with the scientific community. . Many times there wasn’t a dry eye in the house. Bringing the families together with the scientific community was so very encouraging and meant so much to all who attended.
Together we encouraged, supported, learned, cried, laughed and came away with a sense of purpose and hope. I am very much looking forward to our next conference in Atlanta, GA in 2019. I believe it will be just as amazing and exciting to see how the research is progressing and to spend more time with our ISMRD family.

Life Time Awards
During the Awards Dinner ISMRD presented Three Life Time Achievement Awards. Two were given for Science and the third was given for Patient Advocacy.
These awards are given in recognition of the dedication we see in those that we regard as special because they have given their life and talents in trying to seek a cure for these rare and debilitating diseases.
The Science Awards went to Stuart Kornfeld and Alessandra d’Azzo and the Patient Advocacy Award went to ISMRD Board Member John Forman.

Children's Program
The children’s program began on Friday with a visit to the St. Louis Zoo. We sent out 75 children/siblings and their carers for a day filled of fun and laughter. The buses were loaded at 8.30am for a 15-minute drive to the zoo, where everyone was broken down into smaller groups to begin exploring the Zoo.
After their day of fun and visiting the animals, train rides and a very hot day, very tired and happy children and their carers returned to the hotel at 4.30pm. Each child came home with a soft toy a memento of their visit to the best Zoo in the world.

Day two of the children’s program was broken down into three different parts. Children under 15 years of age stayed in the childcare room and were entertained by an Art Therapist and Story telling They also had a visit from Elsa from Frozen and Captain America from the Avengers. What excitement there was when the entertainers were seen coming down the hallway. The smiles and shouts of glee were truly heart melting.
For the older girls 15 years and above there was a pampering session where they got their nails painted and had their hair done ready for the Gala Dinner that evening. We think some of the younger girls also snuck in and got their nails painted. A posh morning tea was donated by the London Tea Shop. The older boys 15 years and over went on a tour of the Ballpark museum.

That evening we hosted our Gala Dinner, where we thanked all our wonderful speakers and presented our Life Time achievement awards, to those who have spent their entire life working in the field of research and advocacy, for Lysosomal Storage Disorders. And – to make sure the children were not left out they had their very own carnival night, where we had face painters, balloon twisters and so much more. Again, the excitement, smiles and laughter was a sight to be seen.
Sunday was a very slow day but the children were visited by Darth Vader and his friends.

The children had the time of their lives and we hope they will have lasting memories of their visit to St. Louis.
ISMRD is very grateful to the Pernillie Foundation who provided funding for the Children’s program and scholarship funding for families who needed a little bit of additional assistance.

Personal Reflections

Giovanna, Davide Bricca and Nocola Cocconi talk about attending the meeting and meeting other affected patients, Dr d’Azzo and Camillo Toro who are working on saialidosis
We were very impressed by the numerous presence of doctors and researchers of these diseases
We have been very attentive to the various interventions that everyone has done, and it’s really awesome to see and feel in person how many diseases there are with similar symptoms and that change the lives of many people, both from infancy and families who suffer for them. Also interesting were the testimonies of parents and some people affected by these diseases (Dan Peach and others).We were interested in our disease (sialidosis) explained very well by D. Azzzo and his staff, our D.ssa Milan, Laura Canafoglia and other people.
We met people who suffer from our own illness and even the Galactosialidosis there were family members who had children affected by this ugly illness which unfortunately has immense deficiencies and very serious
We have been hit by the late salidosis, and we have verified that over the years this disease progresses very seriously.
Unfortunately, our sister Marina was not present, which is also the most serious in terms of speech and path. We have heard about the possibility of a new medication for the care of salidosis regarding PPCA, we hope it is the right therapy to improve this disease that has ruined the lives of many.
We thank everyone, especially you, Dr. D’Azzo and the gentle neurologist Camilo Toro who on the last day of the meeting wanted to meet the families affected by these diseases, to give testimony and to confront us with our illness.
We expect to have good news soon. Thanks for everything.

Louise Ardnall
Being able to attend the conference was an amazing experience for us. Meeting other families with children with the same/similar condition was just invaluable.
Listening to individuals stories from family members and sufferers of these diseases was very emotional but also very close to home.
It is amazing to see what progress is being made in the search for a cure and I am in total ore of these doctors – scientists whom are making it there lives work.
This also helped me to come home with a more positive outlook toward the future just knowing that we are not alone and break throughs are being made.
For that I can not thank you enough for bringing the conference to Europe so we could attend.

Westernik Family
We were very pleased to attend this conference in Rome. We = my daughters Dorenda (18 years old) and Hannah (17 years old) both Sialidosis type 1, accompanied by Marinus-Jan (father) and myself, Ciska (mother).
When we left The Netherlands for his conference we didn’t know what to expect This was the first time we attended the conference.
The girls both had a lot of questions for the investigator/specialist and they were especially very keen on meeting Dr d’Azzo to hear what is going on in her lab. I can truly say that it was confronting and emotional to attend the conference,but it also brought us insight in how many people are working so very hard every day, to make things better for children/adults with a glycoproteinoses storage diseases.
It was such an unique opportunity to meet specialists, investigators and families at one conference.
The first night was a special night. After we had a warm welcome from Jackie James and Jenny Noble we had dinner with the families, specialists and investigators.
We met Dr. d’ Azzo, and she introduced us to Dr. Camillo Toro from the USA, who knows a lot about Sialidosis patients and what helps with the day-to-day care.
As parents we attended parts of the scientific program as well. In the meantime our daughters could rest in the comfortable family room. Afterwards we had the chance to meet our own specialist from the Netherlands and could have lunch with her while talking about the scientific parts. She got in touch with Dr. Camilo Toro as well and they will keep in touch and he will get in touch with the girls neurologist from the Netherlands.
On Friday night we also had the award dinner with live music and we could relax and getting to know the other families better.
Saturday morning was our family morning with the specialists and families affected by Sialidosis. We met a few other families, it was good but also hard and emotional to share our stories and made the decision to stay in contact.
Thank you ISMRD for everything you organized and also thank you sponsors.
We went home with more hope in our hearts and knowing we don’t have to fight this battle alone.
Hope to meet you all again.
Kind regards,
Dorenda and Hannah Westerink, Marinus-Jan Westerink, Ciska Posdijk – The Netherlands

Shirley Jamil
Our journey to Rome to meet families affected by Mucolipidosis and other rare diseases
We’ve just returned from Rome where we attended the 5th Glycoproteinoses International Conference held by the ISMRD.
I was asked to do a presentation on our life as a family living with Mucolipidosis 111. Sam is 15 now, and his health has deteriorated quickly over the past year. I tried to keep it positive, but sometimes it all just gets to you and brings you down. Sam still keeps smiling, singing and drumming. If he’s happy, we’re happy.
We thought it was important for us all to attend as a family this time. Shamim could speak to other fathers and share thoughts, fears and dreams for the future of our kids. It’s not just the mums who care and suffer.
It was important for younger brother Edward to get to meet other siblings who were also silent carers for their affected siblings. To be able to share possible feelings of confusion or resentment at being either a carer, or how it could have been if they too were affected.
Families travelled in from Australia, New Zealand, USA, Norway, Lithuania, Spain, Slovenia, Jordan and UK to find out what if any progress was being made on links to finding cures or ways to improve the lives of those affected.
The scientific talks were way over our heads at times, but it showed how much research was being done in the background. Progress has been moving along at a quicker pace than previously. But never quick enough for the families I suppose.
The great news for us is that research has started on the Gene therapy for ML2 which in turn will help those with ML3.
The family breakout sessions were much more comfortable and intimate with geneticist, doctors and researchers answering our many questions on how, why and importantly- when?
We spoke with many other families about their experiences. When did they get the diagnosis, what were the symptoms, what surgeries, what helps?
Shamim and myself discussed about how we were dipping in and out of people’s lives, asking personal questions, supporting other families by just talking. People who in other ways had no common day to day similarities to ourselves, apart from having a child with a rare disease and feeling isolated.
Subconsciously, you were looking at the other children and possibly comparing & thinking, they’re worse/better than ours, we recognize those symptoms, daring to dream when you see another and she/he doesn’t look that badly affected and they’re older.
The kids had a brilliant time getting to know each other at Gladiator school, clown class and the museum. Naturally, some kids were on phones a lot, but looking closer, they were translating their languages to talk to each other.
What shines out through the tears constantly welling, choked throats and biting of lips of parents trying to keep it together as they spoke about their children was the hope we all hold on to. The hope that a cure might be found soon.
We had smiling faces, heard sounds of laughter and tears, and shared hugs. Emotions that are the same across all continents, races, religion and gender.
Rare diseases don’t discriminate. They can affect anyone. But together, we will help and support each other. You can never underestimate the power of unity when all you want to do is to stop your child from suffering.

Daniel Peach [pdf] writes about his experience of attending the conference in Rome. This was Dan’s first experience of ISMRD and has now become a Board member

6th Glycoproteinoses International Conference – Translating Scientific Discovery into Therapies
2019-07-25 - 2019-07-27 | Atlanta, Georgia, United States
Our 6th International Conference for Glycoprotein Storage Diseases was held in Atlanta, Georgia, USA!
Date: 25 – 27 July 2019 Atlanta, Georgia, USA
Theme: Translating Scientific Discovery into Therapies
Richard Steet has agreed to be the primary investigator for the Scientific Conference. Richard’s vision for the conference is:
This conference will once again bring basic scientists, clinicians and families together to share knowledge and inspiration as we continue towards the goal of translating basic science discoveries into therapies for the glycoproteinoses. We strive to highlight the most current advances in research and to discuss openly how these advances can be developed in treatments that will improve the quality of life for patients and families.

Conference Program
The Scientific and Family program was combined. It was a really exciting program looking at some of the new science for this group of disease
Registration opens 12:30 – 2:00
Thursday July 25th
Tea and Coffee on arrival

2:00 pm
Welcome and Introduction
Richard Steet/Jackie James

2:10 pm
ISMRD Memorial
Jackie James/Jenny Noble

Session 1 – Emerging Areas in Lysosomal Biology. Chair: Richard Steet

2:30 pm
Key Note Presentation: Mannose 6-phosphate- more than a targeting signal for lysosomal enzymes
Thomas Braulke – Germany

3:15 pm
A Stepwise Mechanism for ER-to-Golgi Transport of Lysosomal Enzymes
Marco Sardiello – USA

3:40 pm
Molecular mechanisms of lysosomal mTORC1 regulation by cellular lipids
Chun-Yan Lim – USA

4:05 pm
The Greater Lysosomal System and its Role in Neurological Disease
Steve Walkley – USA

4:30 pm
Patient-driven research to identify treatments
Daniel Peach – New Zealand

5:00 pm
Close of Day

6:30 – 8:30 Welcome Reception
Friday July 26th
Breakfast 7:30 am – 8:30 am
Session 2 – Clinical Management, Care and Support. Chair: Sara Cathey

8:30 am
The Webb Family – Living with Mucolipidosis II/III
Sylvia Webb – Australia

8:45 am
Living with Alpha-Mannosidosis
David Tonge – England

9:00 am
Creating a Medical Home: It really is all about YOU
Dawn Laney – USA

9:20 am
Relieving Stress and Chronic Disease
Nadia Ali – USA

9:45 am
Cardiac Issues associated with the Glycoproteinoses
Nick Pietrus – USA

10:15 am
Morning Break

Session 3 – Lysosomal Biogenesis and Function Chair: Enrico Moro

10:45 am
Analysis of GNPTAB missense mutations is providing insights into glycosyltransferase trafficking in the Golgi
Stuart Kornfeld – USA

11:10 am
Organelle quality control pathways in Niemann-Pick type C disease
Andrew Lieberman – USA

11:35 am
Molecular Pathogenesis and Therapies for the Glycoprotein Storage Diseases Sialidosis and Galactosialidosis
Alessandra d’Azzo – USA

12:00 pm
Machine Learing and Chaperone Therapy for Glycoprotein Storage Diseases drug discovery
Jennifer Klein, USA

12:15 pm
Investigating the immunomodulatory role of the sialidase Neu1 during neurodegeneration and neuroinflammation
Leigh Fremuth – USA

12:30 – 1:30 pm
Lunch

1:30 pm
NEU1-mediated desialylation of the MUC1-ectodomain releases a decoy receptor that protects against P. aeruginosa lung infection
Simeon Goldblum – USA

1:55 pm
VPS51 deficiency causes a human disorder with lysosomal and glycosylation deficits
David Everman- USA

Session 4 – Disease Mechanisms and Models Chair: Sandra d’Azzo

2:20 pm
Bone homeostasis and pathology in MLII and MLIII
Sandra Pohl – Germany

2:45 pm
Cathepsin proteases as key modulators of pathogenesis in lysosomal disease
Heather Flanagan-Steet – USA

3:10 pm
Afternoon Break

3:25 pm
Epigenetic control of lysosomal biogensis and its implication for therapy of lysosomal diseases
Ida Annunziata – USA

3:50 pm
Rewiring the pathogenic cascades underlying Mucopolysaccharidosis type II (MPs III) beyond the lysosomal substrate storage to develop novel therapeutic strategies.
Enrico Moro – Italy

4:15 pm
Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases
Charles Vite – USA

4:40 pm
Towards New-born screening for the glycoproteinoses
Tim Wood – USA

5:05 pm
Role of membrane contact sites in the neuropathogenesis of GM1-gangliosidosis
Jason Weesner – USA

5:20 pm
Regulation of cathepsin protease secretion by the lysosomal neuraminidase Neu1
Tong Wang – USA

5:35 pm
UPLC-MS/MS assay develop,emt for the diagnostic measurement of tetrasaccharides for alpha-mannosidosis
Beniam Berhane – USA

5:50 pm
End of Session – Evening on your own

Saturday July 27th
Breakfast 7:30am – 8:30am
Session 5 – Therapy Chair: Richard Steet

8:30 am
Preclinical gene therapy with scAAV9/AGA in aspartylglucosaminuria mice provides evidence for clinical translation
Steven Gray – USA

8:55 am
Hematopoietic stem cell transplant for the glycoproteinoses
Troy Lund – USA

9:20 am
Personalized therapy approaches for aspartylglucosaminuria
Ritva Tikkanen – Germany

9:45 am
Gene therapy approaches for ML II
Allison Bradbury – USA

10:10 am
Therapy approaches for Fucosidosis in mice
Arne Linhorst – Germany

10:35 am
Morning Break

11:00 am
Enzyme Replacement Therapy for Alpha-Mannosidosis: Bridging the gap between EU and North America
Diego Ardigo, Italy

11:35 am
Gene Therapy for Rare Diseases: Concept to Clinic
Russell Gotschall – USA

12:00 pm
Correction of a splicing defect in the aspartylglucosaminidase (AGA) gene
Antje Banning, Germany

12:15 pm
Therapy options for skeletal alterations in patients with ML II and ML III alpha/beta
Lena Westermann-Germany

12:30 pm
Lunch Break

Session 6 – Directions for Glycoproteinoses Research Chair: Jenny Noble

1:30 pm
Professionals Roundtable Discussion: “The Right Animal Model”

2:15 pm
Afternoon Break – Get Coffee and bring back to meeting room

2:30 pm
Professional Rountable Discussion: “Novel Therapeutic Concepts”

3:15 pm
Future Goals for ISMRD
Mark Stark, Jackie James, Jenny Noble

4:00 pm
Close of Day

6:00 – 7:00 pm
Pre-Dinner Drinks

7:00 – 9:30 pm
Awards Dinner and ISMRD Celebration

Children's Program
To Celebrate ISMRD’s 20th Birthday we thought it would be a great way for ISMRD to showcase its talent.
So whether you want to sing, dance, tell jokes, perform card tricks, read a poem you’ve written or show us anything that you are proud of please share your talent with the ISMRD family.
The Theme for the Children’s program was:
ISMRD’s got Talent!
Thursday 25th July 2:00pm – 5:00pm
2:00 pm
Welcome & getting to know each other activities
Paper, scissors, rock off competition
Fortnite ‘Dance offs’
Bedazzled name tags

Friday 26th July
8:30am
Music auditions & Talent show try-outs
10:15am
Morning Break
10:45am
Indigenous colouring & story time (Dreamtime)
Making musical instruments
12:30pm
Lunch Break
1:30pm
Arts and crafts
Calming bottles
3:15pm
Music auditions & Talent show try-outs continued
5:30pm
End of Day

Saturday 27th July
8:30am
Music lesson/choir for Awards Dinner finale – Song TBC – Million Dreams- Greatest Showman
Origami & chatterboxes
10:30am
Morning Break
11:00am
Music lessons-jamming continued
12:30pm
Lunch
1:30pm
Storyboard Massage
Arts & Crafts
5:30pm
Close of day

Committee and Sponsors
Scientific Committee
Richard Street – USAAmelia Morrone – ItalyDag Malm – NorwayThomas Braulke – GermanyHeather Flannagan Street – USA
ISMRD Conference Committee
Jenny Noble – New ZealandJackie James – USA
Conference Donors
ISMRD is very grateful to the following companies who have provided Charitable Donations for the conference:

ISMRD's International Forum
2025-08-08 - 2025-08-09 | Graduate by Hilton Hotels, Minneapolis, United States
Speaker Bios: Medical Professionals A-L

Speaker Bios: Medical Professionals M-Z

Speaker Bios: Parents & Patients

Forum Program

Forum videos

Forum Photo Gallery

Forum Info

Join ISMRD at Our International Forum: Together We Are Strong!
When: August 8-9, 2025
Where: Graduate Minneapolis, Minnesota, USA or via live webinar
Don’t miss the opportunity to join ISMRD for our International Forum: Together We Are Strong, held in person in Minneapolis, MN, USA, or on a live webinar from August 8-9, 2025. During these two days, families, patients, doctors, researchers, and pharmaceutical companies will unite to strengthen our community and common goals. This forum is a unique chance to forge new partnerships, sow the seeds of new plans and strategies, and form new attachments. Coming together during this Forum will help us to become even stronger!
ISMRD is the leading global advocate for the nine Glycoproteinoses: Alpha-Mannosidosis, Aspartylglucosaminuria (AGU), Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Mucolipidosis II Alpha/Beta, Mucolipidosis III Gamma, Schindler Disease, and Sialidosis.
The theme of our Forum, “Together We Are Strong,” aligns perfectly with ISMRD’s Mission: to detect and cure Glycoprotein Storage Diseases and to provide a global network of support and information through partnerships built with medicine, science, and industry. We have always known that working together is our greatest strength.

Event Details
For the Forum Program, please visit this link.

Thank You to ISMRD's Sponsors
Thank you to ISMRD’s International Forum Sponsors:
Platinum Sponsorship

Silver Sponsorship

Additional Support Provided By
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Dave Maxwell, Paul Murphy
Thank You to ISMRD’s International Glycoproteinoses Conference Past Sponsors:
Mallinckrodt Pharmaceuticals, EveryLife Foundation, Sanofi Genzyme, Office of Rare Diseses, JCR Pharmaceuticals, Moderna, Chiesi, PTC Therapeutics, Shire, Zymenex, Rock 4 Dakatah, Mercy Medical Airlift, National Institute of Health, Amicus Therapeutics, Washington University in St. Lois School of Medicine, National Institute of Neruological Disorder and Stroke, The Wagner Foundation, The Pernille Foundation, Dr. Charles Vite, Dr. Mark Haskins
