Useful Links
Useful Links and Books
ISMRD offers the following external sites for their potential usefulness 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.
Jump to a specific section:
Diagnostic Resources | Directory-Search Sites | Specific Laboratories | Prenatal Testing | Research | Biopharmaceutical Companies | Clinical Trials | Organizations & Agencies | Therapies | Bone Marrow & Cord Blood Transplants | Enzyme Replacement Therapy (ERT) | Pamidronate | Books
Diagnostic Resources
Find diagnostic laboratories performing molecular and DNA analysis for establishing an initial diagnosis.
Directory-Search Sites
Testing Laboratories
Prenatal Testing
Sites that explain or perform prenatal testing.
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 (View or download PDF)
- The Natural History and Osteodystrophy of Mucolipidosis Types II and III (View or download PDF)
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
- Caring for Rare Disease Caregivers: A helpful guide with lots of suggestions for family caregivers caring for loved ones with Rare Diseases.
- Probably Genetic
- Galactosialidosis Network
- National MPS Society
- Cure ML
- Patient Worthy
- The Lost Enzyme Project
- Metabolic Support UK
- 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
- PALS SkyHope: Free medical flights for people who need to access medical care that may be too far to get to by car
- Angel Flight NE: Free Medical Air Transportation
Books
Rare Disease Epidemiology
In mid-2017, John was invited to write a preface for a book called Rare Diseases Epidemiology, which concentrates on the work done for LDNZ and ISMRD and talks about what patient advocates can achieve. View or download the PDF here.
Transitions: Managing Your own Healthcare: What Every Teen with an LSD needs to know
This is a wonderful book that helps families manage the transition from childhood to adulthood. It helps the young person understand how to take over their own care.
Kelley’s Journey: Facing a Rare Disease with Courage
Denise Crompton is the author of this book. Her daughter Kelley was affected by Mucolipidosis type III. The book is about the family’s journey of living with ML III and how they managed the very complex issues.
Diagnosis: Rare Disease
Destined to be a classic ……. The sequel to Kelley’s Journey. In Diagnosis: Rare Disease, Denise Crompton offers a compelling look at 13 families who received the diagnosis no parent ever wants to hear. This gripping book provided a heartbreaking expose of what life is like for families that have a member with a rare disease.
