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Study of Ataluren (PTC124®) in Hemophilia A and B

This study has suspended participant recruitment.
Genzyme, a Sanofi Company
Information provided by:
PTC Therapeutics Identifier:
First received: July 23, 2009
Last updated: October 31, 2011
Last verified: October 2011
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.

Condition Intervention Phase
Hemophilia A
Hemophilia B
Drug: Ataluren (PTC124)
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Phase 2a Study of Ataluren (PTC124) as an Oral Treatment for Nonsense-Mutation-Mediated Hemophilia A and B

Resource links provided by NLM:

Further study details as provided by PTC Therapeutics:

Primary Outcome Measures:
  • Pharmacological effect as measured by plasma FVIII/FIX activity [ Time Frame: 1.5 months ]

Secondary Outcome Measures:
  • Effect of ataluren (PTC124) on additional markers of disease activity [ Time Frame: 1.5 months ]
  • Safety profile of ataluren (PTC124) [ Time Frame: 1.5 months ]
  • Compliance with ataluren (PTC124) administration [ Time Frame: 1.5 Months ]
  • Ataluren (PTC124) plasma exposure [ Time Frame: 1.5 months ]
  • Occurrence of bleeding episodes [ Time Frame: 1.5 months ]

Estimated Enrollment: 24
Study Start Date: August 2009
Estimated Study Completion Date: May 2012
Estimated Primary Completion Date: May 2012 (Final data collection date for primary outcome measure)
Intervention Details:
    Drug: Ataluren (PTC124)
    Ataluren (PTC124) will be provided as a vanilla-flavored powder to be mixed with water or milk. Ataluren (PTC124) will be taken 3 times per day, with dosing based on the patient's body weight. The dose level for ataluren (PTC124) will be 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 14 days.
Detailed Description:
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.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

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: Patients are allowed use of FVIII/FIX concentrates for treatment of bleeding episodes while on study)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00947193

United States, Illinois
The Bleeding and Clotting Disorders Institute
Peoria, Illinois, United States, 61614
United States, Indiana
St. Vincent Indianapolis Hospital
Indianapolis, Indiana, United States, 46260
United States, Massachusetts
New England Hemophilia Center
Worcester, Massachusetts, United States, 01605
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
United States, Tennessee
Vanderbilt Hemostatis and Thrombosis Clinic
Nashville, Tennessee, United States, 37232
United States, Washington
Puget Sound Blood Center
Seattle, Washington, United States, 98104
Canada, British Columbia
St. Paul's Hospital
Vancouver, British Columbia, Canada, V6Z 1Y6
Hôpital Cardiologique
Lille Cedex, France
Hôpital Edouard Herriot
Lyon Cedex, France
Hôpital Necker Enfants Malades
Paris, France
Azienda Ospedaliero-Universitaria Careggi Viale G.B. Morgagni
Firenze, Italy
A.Bianchi Bonomi Hemophilia and Thrombosis Center
Milano, Italy
Sponsors and Collaborators
PTC Therapeutics
Genzyme, a Sanofi Company
Principal Investigator: Jay Barth, MD PTC Therapeutics
  More Information

Additional Information:
Responsible Party: Peter Riebling, PTC Therapeutics Identifier: NCT00947193     History of Changes
Other Study ID Numbers: PTC124-GD-011-HEM
Study First Received: July 23, 2009
Last Updated: October 31, 2011

Keywords provided by PTC Therapeutics:
Hemophilia A
Hemophilia B
Factor VIII
Factor IX
Nonsense mutation
Premature stop codon

Additional relevant MeSH terms:
Hemophilia A
Hemophilia B
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Coagulation Protein Disorders
Hemorrhagic Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Factor VIII
Coagulants processed this record on April 21, 2017