PatientCrossroads CMD


Clinical Trials and Studies Overview

The CMDIR’s mission is to provide the latest information regarding international CMD clinical studies and trials and connect the CMD community: people with CMD, their families, doctors, researchers and the pharmaceutical industry. The CMDIR Advisory Board reviews all clinical studies posted.  Clinical trial information is pulled directly from using CMD and LGMD nomenclature below.

What is a clinical study? A clinical study answers questions about CMD.  A study may enroll people with CMD or may access information retrospectively (in the past) through chart review.

How does a clinical study differ from a clinical trial? A clinical study may not test an intervention, yet answers important questions about CMD.  Clinical studies can lead to clinical trials.

What is a clinical trial? A clinical trial measures an intervention.  An intervention can either be a medical compound (drug) or a treatment plan (exercise regimen).

Clinical study and trial information is posted for the following CMD/LGMD subtypes and associated genes:

Congenital muscular dystrophy subtypes included in the CMDIR

  • Alpha 7 Integrin Related Myopathy
  • Alpha 9 Integrin Related Myopathy
  • Collagen VI Related Myopathy (Ullrich through Bethlem CMD)
  • Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, LGMD2i, LGMD2k, LGMD2N, LGMD2L)
  • Choline Kinase B Receptor
  • LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient)
  • LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy)
  • SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy)
  • SYNE1 (Nesprin Related Muscular Dystrophy)
  • Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap)
  • CMD Undiagnosed (including Merosin Positive)

Congenital Myopathy subtypes included in CMDIR

  • Actin aggregation myopathy
  • Cap disease
  • Central core disease
  • Centronuclear myopathy
  • Congenital fiber type disporportion
  • Core rod myopathy
  • Hyaline body myopathy
  • Multiminicore myopathy
  • Myotubular myopathy
  • Nemaline myopathy
  • Reducing body myopathy
  • Spheroid body myopathy
  • Tubular aggregate myopathy
  • Zebra body disease myopathy
  • Congenital Myopathy with unknown subtype

Congenital Myasthenic Syndrome (all subtypes included in CMDIR)

If you are an investigator with a CMD clinical study or trial that you would like to submit to post on the CMDIR site, please contact This e-mail address is being protected from spambots. You need JavaScript enabled to view it