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