ISMRD

4th Glycoproteinoses International Conference – Advances in Pathogenesis and Therapy
2015-07-23 08:00 - 2015-07-26 17:00 (America/New_York) | 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
. .
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
