Study of Ataluren (PTC124Â®) in Hemophilia A and B

Status:	Archived
Conditions:	Anemia, Hematology
Therapuetic Areas:	Hematology
Healthy:	No
Age Range:	Any
Updated:	7/1/2011
Start Date:	August 2009
End Date:	February 2011

A Phase 2a Study of Ataluren (PTC124) as an Oral Treatment for Nonsense-Mutation-Mediated Hemophilia A and B

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 patients 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 patients 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.

In this study, patients with hemophilia A or hemophilia B due to a nonsense mutation will be
treated with an investigational drug called ataluren (PTC124). Evaluation procedures to
determine if a patient qualifies for the study will be performed within 14 days prior to the
start of treatment. Eligible patients who elect to enroll in the study will then participate
in a 28-day treatment period. Within the 28-day period, ataluren (PTC124) treatment will be
taken 3 times per day with meals for 14 days at a dose of 10 mg/kg (morning), 10 mg/kg
(midday) and 20 mg/kg (evening); there will then be an interval of approximately 14 days
without treatment. During the study, ataluren (PTC124) efficacy, safety, and
pharmacokinetics will be evaluated periodically with measurement of FVIII/FIX activity and
inhibitor levels, other blood tests, and urinalysis.

We found this trial at

sites

Cincinnati Children's Hospital Medical Center

3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229

1-513-636-4200