Overview of Phase 2a Clinical Trial

PTC Therapeutics has initiated a Phase 2a clinical trial of the investigational drug ataluren (formerly referred to as PTC124®) in patients with nonsense mutation hemophilia type A and B (nmHA and nmHB). The trial is a multi-center, open label study. The main goals of the trial are to determine whether treatment with ataluren can result in an increase in Factor VIII or IX levels and whether the drug can safely be given to people with severe hemophilia due to a nonsense mutation.

The trial will last approximately 6 weeks for each participant, consisting of a 2-week screening period, a 2-week treatment period, and a 2-week follow-up period. All participants will receive ataluren, which is a vanilla-flavored powder supplied in an aluminum foil packet. It is mixed in water or milk and is taken by mouth. Participants will need to take the ataluren 3 times per day (at morning, midday, and evening) for 14 days. The amount of drug will be determined by the patient’s body weight in kilograms (1 kilogram equals 2.2 pounds) at the start of the study. The dosage level is 10 milligrams (mg) per kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening.

During the trial, participants will visit the research center once a week for various laboratory tests to evaluate the effects and safety of the drug and may be asked questions about their experience in the study.

Requirements for Participating in this Study
To be eligible for this trial, patients must have a DNA blood test, or genetic test, to determine if their hemophilia is caused by a nonsense mutation. Participants must also meet the following criteria:
• be male
• be at least 18 years of age
• have severe hemophilia type A or B (Factor VIII or Factor IX level less than 1%)
• not be regularly infusing Factor VIII or Factor IX concentrates to prevent bleeding
• not have a history of inhibitors
• not have a history of any bleeding or coagulation abnormalities other than hemophilia

Other eligibility requirements will be explained at the trial site.

• Trial sites
• Frequently Asked Questions
• ClinicalTrials.gov Overview
• Ataluren overview
• Genetic Testing

Additional details about this ataluren clinical trial can be found at www.clinicaltrials.gov or by contacting PTC Therapeutics Patient and Professional Advocacy at (866) 282-5873 or PatientInfo@ptcbio.com.