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 Trial of PF-06252616 in Ambulatory Participants With LGMD2I
2 Phase Pilot Trial II-III With N-acetylcysteine in SEPN1- related myopathy (SELNAC)
3 CMS Amifampridine Phosphate Study
4 MTM Manifesting Carrier Study
5 Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies
6 INCEPTUS: A Non-Interventional Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM)
7 A Medical Chart Review of Patients with X-linked Myotubular Myopathy (XLMTM)
8 Congenital Myasthenic Syndrome: Expanded Access Study of Amifampridine Phosphate
9 Antioxidant Therapy in RYR1-Related Congenital Myopathy (N-Acetylcysteine)
10 CALLISTO Omigapil Study (Collagen VI & LAMA2)
11 MTM1 Carrier Survey
12 Congenital Muscle Disease HYPOGLYCEMIA Survey (CMD Hypoglycemia)
13 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
14 Use of Tyrosine in Nemaline Myopathy
15 A Study to Test Hyperinsufflation to Slow the Rate of Decline in Children With Collagen VI or LAMA2-CMD
16 Development of a Proxy Motor Outcome Assessment in Young Children with Neuromuscular Disease
17 Clinical Trial Readiness for the Dystroglycanopathies
18 MTM Genetic Testing Study
19 Prospective Event Rate Study in Males with X-linked Myotubular Myopathy
20 Clinical Trials and Studies Overview