The Congenital Muscle Disease International Registry (CMDIR)

The Congenital Muscular Dystrophy International Registry (CMDIR) was created to identify the global CMD population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The CMDIR is a patient self report registry, launched in September 2009, now available in French, German, Spanish and English, with Turkish, Danish, Italian, Japanese and Portuguese pending.

The registry includes demographic, disease specific and diagnostic questions.  The CMDIR has online help and genetic counselors available to answer questions.  If patients do not yet have genetic confirmation of disease, CMDIR counselors will help find a laboratory to determine the genetic mutation (if known).

CMD Subtypes included in CMDIR:

LGMD subtypes included in CMDIR:

The CMDIR’s goal is to register the global CMD population, both those with and without genetic confirmation and to provide a centralised resource for the posting of CMD- LGMD clinical studies and trials. The CMDIR registers across the CMD to LGMD spectrum for the “CMD” genes with the knowledge that therapeutic development may not differentiate between age of onset.

The CMDIR is neither a natural history study nor a genotype-phenotype database – it exists as a patient/family resource with the ability to contact eligible patients regarding active and recruiting CMD clinical studies and trials with no obligation to participate.

Click here to register.