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. In 2008 the MDEX team used the Registry to make contact with children with Duchenne for the UK exon skipping trial.

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 (our your child’s) name added to the DMD Registry click here.

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. For more information about the registry and how to register, click here.

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. For more information click here.

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. For more information go to http://www.cmdir.org/

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 www.collagen6.org.