Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy

Phase 2 Completed 38 enrolled PTC Therapeutics Muscular Dystrophy Association · collab

Non-randomizedSingle-groupOpen-labelTreatment

Summary

In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. The main purpose of this study is to understand whether PTC124 can safely increase functional dystrophin protein in the muscles of patients with DMD due to a nonsense mutation.

Timeline

Start: 2005-12
Primary completion: 2007-05
Completion: 2007-05

Publications

Finkel RS, Flanigan KM, Wong B, Bonnemann C, Sampson J, Sweeney HL, Reha A, Northcutt VJ, Elfring G, Barth J, Peltz SW. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One. 2013 Dec 11;8(12):e81302. doi: 10.1371/journal.pone.0081302. eCollection 2013.

Drugs

Evaluation	Drug	Modality	Dose	Route
Subject	Ataluren	Small molecule	4 mg/kg	Oral
Subject	Ataluren	Small molecule	8 mg/kg	Oral
Subject	Ataluren	Small molecule	10 mg/kg	Oral
Subject	Ataluren	Small molecule	20 mg/kg	Oral
Subject	Ataluren	Small molecule	40 mg/kg	Oral

Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy

Summary

Timeline

Publications

Drugs

Indications