The Global Registry for COL6-related Dystrophies

Information

The Global Registry for COL6-related dystrophies is a database for individuals who have been diagnosed with Bethlem Myopathy (BTHLM1), Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases.

This patient registry will:

  • Help identify patients for relevant clinical trials as they become available
  • Encourage further research into COL6-related dystrophies
  • Provide researchers with specific patient information to support their research
  • Assist doctors and other health professionals by providing them with up-to-date information on managing COL6-related dystrophies, to help them deliver better standards of care for their patients

Registry LocationInternational - available to Australians
Registry ParticipationVoluntary
Registry Contact

Registry curator  – Alison Blain

E: Alison.Blain@ncl.ac.uk

Adding New Patients to Registry

The registry is now accepting registrations in English.

We welcome the registration of:

  • All patients, with a diagnosis of COL6-related dystrophies, which has been confirmed via genetic testing or muscle biopsy.

 

If you have not had a confirmed diagnosis, but you would like to receive updates and newsletters from the registry, please email Alison.Blain@ncl.ac.uk and ask to be added to our general mailing list.

Our aim is to make our registry the most comprehensive there is for this specific condition, to give us an insight into the numbers of people affected and to help us understand more about the natural history of the disease.

Please see the website for more information

collagen6.org

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