PatientCrossroads CMD


Ongoing Studies

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. 

1 A Medical Chart Review of Patients with X-linked Myotubular Myopathy (XLMTM)
2 Congenital Myasthenic Syndrome: Expanded Access Study of Amifampridine Phosphate
3 Ryanodine Receptor-1 (RYR1) Related Myopathy Research Study 15-NR-0072 Volunteers Needed
4 CALLISTO Omigapil Study (Collagen VI & LAMA2)
5 Congenital Muscle Disease HYPOGLYEMIA Survey (CMD Hypoglycemia)
6 MTM1 Carrier Survey
7 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
8 Use of Tyrosine in Nemaline Myopathy
9 A Study to Test Hyperinsufflation to Slow the Rate of Decline in Children With Collagen VI or LAMA2 -CMD
10 Development of a Proxy Motor Outcome Assessment in Young Children with Neuromuscular Disease
11 Clinical Trial Readiness for the Dystroglycanopathies
12 MTM Genetic Testing Study
13 Prospective Event Rate Study in Males with X-linked Myotubular Myopathy
14 Clinical Trials and Studies Overview