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Study of Ataluren (PTC124) in Hemophilia A and B

NCT00947193 · Status: TERMINATED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 13

Last updated 2020-06-16

Study results available
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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.

Conditions

Interventions

DRUG

Ataluren

Oral powder

Sponsors & Collaborators

  • Genzyme, a Sanofi Company

    collaborator INDUSTRY

  • PTC Therapeutics

    lead INDUSTRY

Principal Investigators

  • Jay Barth, MD · PTC Therapeutics

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-10-14
Primary Completion
2011-08-30
Completion
2011-08-30

Countries

  • United States
  • Canada
  • France
  • Italy

Study Locations

More Related Trials

Entities

Drugs
Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00947193 on ClinicalTrials.gov