Study of Ataluren (PTC124) in Hemophilia A and B

• Status: Terminated
• Trial end date: 2011-08-30
• Target enrollment: 0
• Participant gender: Male

Summary

Hemophilia A (HA) and hemophilia B (HB) are inherited bleeding disorders caused by mutations in the gene for factor VIII (FVIII) and factor IX (FIX), respectively. These proteins are essential for blood clotting. The lack of FVIII/FIX can produce bleeding episodes that cause damage of the bone, muscles, joints, and tissues. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of the disease in approximately 10-30% of participants with hemophilia and results in severe manifestations. Ataluren (PTC124) is an orally delivered, investigational drug that acts to overcome the effects of the premature stop codon, potentially enabling the production of functional FVIII/FIX. This study is a Phase 2a trial evaluating the safety and efficacy of ataluren in participants with HA or HB due to a nonsense mutation. The main purpose of this study is to understand whether ataluren can safely increase FVIII/FIX activity levels.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: PTC Therapeutics
• Collaborator: Genzyme, a Sanofi Company
• Treatments: Factor VIII

Criteria

Inclusion Criteria:

• Ability to provide written informed consent

• Age ≥18 years

• Presence of a nonsense mutation as the sole disease-causing mutation in the FVIII or FIX gene

• At least 20 prior treatments with FVIII or FIX concentrates

• Willingness and ability to comply with scheduled visits, drug administration plan, study restrictions, and study procedures

Exclusion Criteria:

• Known hypersensitivity to any of the ingredients or excipients of the study drug

• Any history of prior anti-FVIII/FIX inhibitors

• Unable or unwilling to forego prophylactic FVIII/FIX concentrate use during the screening and on-study periods (Note: Participants were allowed use of FVIII/FIX concentrates for treatment of bleeding episodes while on study)