Registries

Duchenne Muscular Dystrophy Registry

A DMD Registry has been set up by Action Duchenne as a tool for researchers to find individuals with specific gene variations and other clinical criteria for new Duchenne clinical trials. The DMD Registry aims to register people living with Duchenne and Becker Muscular Dystrophy as well as carriers of gene variation of the condition. The main purpose of the Registry is to allow clinicians and researchers to accelerate clinical trials and other research. If you would like to have your (or your child’s) name added to the DMD Registry.

Spinal Muscular Atrophy Registry

TREAT-NMD, in partnership with Spinal Muscular Atrophy Support group in the UK, has developed a registry for people with SMA in the UK and Ireland. This registry is useful, not only for researchers carrying out clinical trials, but also to obtain prevalence data about the number of people with the condition and to try to achieve equal care for all people with SMA. Information about the registry and how to register.

Limb Girdle Muscular Dystrophy

The Jain Foundation offers a free patient registry for individuals who have been genetically diagnosed with dysferlinopathy (LGMD2B and Miyoshi Myopathy) through the identification of mutation(s) in the dysferlin gene.

Congenital Muscular Dystrophies

The CMDIR is a global registry for congenital muscle disease (CMD) with a goal, to achieve global registration of the CMD community. The CMDIR is a central hub for up to date information regarding CMD clinical studies and trials. Through the CMDIR, the CMD community has a home- a place to register with and without genetic confirmation of disease and a means by which to be contacted for clinical news.

Global Registry for COL6-related dystrophies

The Global Registry for COL6-related dystrophies is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. The registry team is based at the John Walton Muscular Dystrophy Research Centre at  Newcastle University, UK and is part of the TREAT-NMD alliance global network of registries.. For more information go to collagen6.

DYNC1H1 Association Registry

The DYNC1H1 Association has an international registry for people with DYNC1H1-related disorders. For more information about this Registry or go to dync1h1.org/registry