Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

MONDO:0016147

Also known as: dystrophinopathy, qualitative or quantitative defects of dystrophin

5 clinical trials for this condition and its sub-types, 4 tagged with Neuromuscular disease caused by qualitative or quantitative defects of dystrophin itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Qualitative or quantitative protein defects in neuromuscular diseases (30)

Sub-types of Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Dilated cardiomyopathy 3B 1 trial
Isolated asymptomatic elevation of creatine phosphokinase 0 trials

Including sub-types (5) Tagged with Neuromuscular disease caused by qualitative or quantitative defects of dystrophin (4)

Trials to join now! 3 Completed 1

Experimental drug ataluren tested for safety in duchenne MD patients

Disease control Completed

This study tested the safety of a drug called ataluren (also known as Translarna) in 270 people with Duchenne muscular dystrophy caused by a specific type of genetic mistake (nonsense mutation). Participants had already taken ataluren in earlier studies. The goal was to monitor s…

Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 11:00 UTC

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Where it sits in the disease tree

Experimental drug ataluren tested for safety in duchenne MD patients