Registry newsletters will be published here when they are available
Other registries and projects which you may be eligible to participate in
- The Cure-CMD Congenital Muscular Dystrophy International Registry (CMDIR) is a patient entered registry which accepts registration of patients with a diagnosis of Ullrich CMD, Bethlem Myopathy or Ullrich/Bethlem Intermediate.
Relevant press releases
- Santhera Announces Successful Completion of First Clinical Trial with Omigapil in Patients with Congenital Muscular Dystrophy, April 5th 2018
Resources on other websites
- Ullrich congenital muscular dystrophy fact sheet (from Muscular Dystrophy UK)
- The Management of Congenital Muscular Dystrophy: A guide for families from Cure-CMD
- Information on obtaining an alert card from Muscular Dystrophy UK- alert emergency health care professionals of the specific issues which are relevant to care.
- Tips on safe data sharing: Are you protecting your personal data and being a ‘smart’ research participant? (from the Myotubular and Centronuclear Myopathy Patient Registry)
- Understanding the drug discovery process (from the website Compound Interest)
- Basic overview of the FDA (USA) drug approval process (from the MTM-CNM Family Connection)
- MDUK Research Line: A helpline run by MDUK which can help you better understand the latest research into your condition.
- Research project updates from Noelia Foundation website.
- Bethlem Myopathy information and UCMD information from the NIH Genetic and Rare Diseases Information Center
Patient organisations and support groups
- Muscular Dystrophy UK
- Cure CMD
- Noelia Foundation (Spain)
- Collagen VI group for patients and families (new Facebook page moderated by MDUK and the registry curator for UK patients and families)
- Ullrich CMD (Intermediate to Severe Collagen VI) Support Group (Cure CMD Facebook group)
- Bethlem Myopathy (Mild to Intermediate Collagen VI) Support group (Cure CMD Facebook group)
- Bethlem Myopathy (Mild to Intermediate Collagen VI) Public Group (Cure CMD Facebook group)
- Advocacy Ambassadors: Patients in the UK can contact MDUK if they are interested in being put in touch with an Advocacy Ambassador. Advocacy Ambassadors are all affected- directly or indirectly- by a muscle -wasting condition. They all have knowledge of navigating social and health services.
- Advocacy and Information Officers: patients in the UK can have access to their local Advocacy and Information Officer who can help with access to services (disability welfare benefits, housing, housing adaptions, education, care packages and wheelchairs).
Blogs and social media
- Carrie Aimes lives with UCMD and is a disability blogger:
Patient information sheets for UK participants:
- Information sheet for participants over the age of 16 PIS_Aged_16+_COL6_Registry_version_1.2
- Information sheet for parents who are registering a child under the age of 16 PIS_Parental_COL6_Registry_version_1.2
- Information sheet for children aged 11-15 PIS_Age_11-15_COL6_Registry_version_1.1
- Information sheet for children under the age of 11 PIS_Under 11_COL6_Registry_version_1.1
We would like to acknowledge Ingrid Verhaart (Leiden University Medical Centre) for her help with translation of the registry to Dutch.