ISMRD offers the following external sites for their potential usefullness in understanding Glycoprotein Storage Diseases. However, a listing here is not to be construed as an endorsement of that site’s content by ISMRD and its Board of Directors.
Caregiver Action Network
Caring for Rare Disease Caregivers: A helpful guide with lots of suggestions for family caregivers caring for loved ones with Rare Diseases.
Diagnostic Resources
Find diagnostic laboratories performing molecular and DNA analysis for establishing an initial diagnosis.
Directory-Search Sites
Specific Laboratories
- Australia: National Referral Laboratory
- Norway: University Hospital of Northern Norway
- United States: Baylor College of Medicine | Greenwood Genetic Center | Institute of Genomic Medicine (UMDNJ) | Hayward Genetics Center, Tulane University
Prenatal Testing
Sites that explain or perform prenatal testing.
- Kid’s Health for Parents
- Gene Tests International Clinic Directory
- Greenwood Genetic Center (US)
- Human Genome Project: Gene Testing
- March of Dimes: Prenatal Testing
- Mayo Clinic: Benefits and Risks of Genetic Tests
- Pacific Fertility Center (US)
- US National Library of Medicine
Research
Investigation of new therapeutic techniques for Glycoprotein Storage Diseases and their underlying causes has accelerated in this new millennium. The following sites may be explored for monitoring this activity’s impact on Glycoprotein Storage Diseases.
Biopharmaceutical Companies
Clinical Trials
ClinicalTrials.gov: the National Institutes of Health’s index of clinical trials proposed, under way and terminated.
Organizations & Agencies
- Coriell Institute
- National Ataxia Foundation
- National Center for Complimentary & Alternative Medicine
- National Institute of Child Health & Development
- National Institute of Dental & Craniofacial Research
- National Institute of Neurological Diseases & Stroke
- The Office of Rare Diseases Research (ORDR)
- Society for the Study of Inborn Errors of Metabolism
- National Organization for Rare Disorders
- Global Genes – Global Genes have a wonderful section called Rare Toolkits that you might find useful
- EveryLife Foundation
- IRDIRC
- EURORDIS: The voice for Rare Disease Patients in Europe
- ICORD
- Genetic Alliance
- Lysosomal Disease Network
Therapies
Current therapies for Glycoprotein Storage Diseases are primarily supportive or palliative in nature. However, bone marrow and cord blood transplantation have shown initial success for patients with Alpha-Mannosidosis and Fucosidosis. Enzyme Replacement Therapy is currently in phase III clinical trials for Alpha-Mannosidosis.
Bone Marrow & Cord Blood Transplants
- BMT Resources: Information assembled for the lay person by a five-time transplant recipient
- Cord Blood Donor Foundation
- Genetic Disease Treatment Options: University of California San Francisco transplant program’s information on options for Lysosomal Diseases
- National Cord Blood Program
- National Marrow Donor Program
- Robert’s Road to Recovery: Kathleen King’s online journal about her son, Robert’s, two transplants for Alpha-Mannosidosis.
Ronald McDonald House Charities: Ronald McDonald Houses provide housing support internationally for families with a relative receiving a transplant - TransWeb: A Resource on Transplantation and Donation
Enzyme Replacement Therapy (ERT)
- Efficacy of ERT In Mice with Alpha-Mannosidosis
- The Hue-Man Project: A European collaborative effort to develop an effective enzyme replacement therapy for Alpha-Mannosidosis
Pamidronate
- The A to Z of Mucolipidosis III: see sections ‘What is Pamidronate and how does it work?‘ and ‘Side Effects of Pamidronate Treatment‘
- Medline
- The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment (pdf)
- Pamidronate infusion guidelines for mucolipidosis (pdf)