Do you have a patient with congenital myopathy or congenital muscular dystrophy? If yes, please help us build a database of patients and DNA to support clinical trials and improve efficiency of patient contact. When you have patients collecting blood for genetic tests (like at the University of Chicago) please consider asking them to register in the CMDIR and simultaneously draw blood for the CMD BioBank. Tell your patients to visit www.cmdir.org.
The Congenital Muscle Disease International Registry (CMDIR) was created to identify the global congenital muscle disease population for the purpose of raising awareness, developing standards of care, and implementing clinical trials in pursuit of treatments or cures. This registry includes congenital myopathy (all subtypes) and congenital muscular dystrophy (all subtypes) and registers through the limb girdle spectrum for both disease groups (see below for a complete list). Registrants will receive the CMDIR annual newsletter, notice of available clinical trials and notice of available therapies that apply to their registered profile.
The CMDIR does not collect blood or cells; it collects information and medical records. However, the CMDIR does interact with the CMD BioBank to provide clinical information that is not identifying for specimens donated to the BioBank.
The purpose of the CMD BioBank is to accelerate research in the congenital muscle diseases. The CMD BioBank is focused on setting up 4 important types of resources for scientists to work with: fibroblast cell lines, lymphoblast cell lines, buffy coats and iPS cell lines. CMD BioBank samples are kept at the NIGMS Repository at Coriell Institute for Medical Research.
The CMDIR has over 350 registrants and building with your help. The CMDIR is available in English, Spanish, French, Portuguese and German. Genetic counseling services will be in English only with the option of a referral to a genetic counselor or neurologist in the home country.
The registry includes people with congenital myopathy (all subtypes) and congenital muscular dystrophy (all subtypes) and through the limb girdle spectrum for both disease groups. You do not have to have a genetic diagnosis to participate. See the diagnoses list below:
Congenital Muscular Dystrophies included: Ullrich CMD and Intermediate Collagen VI myopathy,, Laminin Alpha 2 deficient CMD (MDC1A/Merosin def CMD), CMD, undiagnosed (including merosin positive), Dystroglycanopathy (WWS, MEB, Fukuyama), Integrin alpha 7 deficiency, Integrin alpha 9 deficiency, Laminopathy (Lamin A/C), Rigid Spine muscular dystrophy (SEPN1)
LGMD subtypes included: Bethlem myopathy, Dystroglycanopathies (LGMD2K, LGMD2I, LGMD2L, and LGMD2N)
Congenital myopathy subtypes included: Actin aggregation myopathy, Cap disease, Central core disease, Centronuclear myopathy, Congenital fiber type disproportion, Core rod myopathy, Hyaline body myopathy, Multiminicore myopathy, Myotubular myopathy, Nemaline myopathy, Tubular aggregate myopathy, Zebra body disease myopathy, Congenital myopathy, other
Later onset subtypes of myopathy included: Reducing body myopathy, Sarcotubular myopathy and spheroid body myopathy
For questions, contact: counselor@cmdir.org or Anne Rutkowski, MD 310-938-2008
Together with your support we can succeed in finding treatments and a cure, but we must first know who the affected individuals are, what their diagnosis is and how the disease is affecting each individual.
Sarah Foye--Joshua Frase Foundation
Marc Guillet--A Foundation Building Strength
Brendan Sullivan--Cure CMD
Anne Rutkowski, MD--Cure CMD
Alison Frase--Joshua Frase Foundation
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