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Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)

NCT01009294 · Status: TERMINATED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 6

Last updated 2020-07-29

Study results available
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Summary

Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that enrolled boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study evaluated the safety and tolerability of ataluren (PTC124) and also evaluated efficacy outcomes in this participant population.

Conditions

Interventions

DRUG

Ataluren

Oral powder

DRUG

Chronic Corticosteroid Therapy

Enrollment was stratified to ensure evaluation of approximately half of the participants were receiving chronic corticosteroid therapy and approximately half of participants were not receiving chronic corticosteroid therapy. Therefore, 3 out of 6 participants were receiving chronic corticosteriod therapy. For the participants receiving chronic corticosteriod therapy, a stable corticosteriod regimen was to be maintained during the study.

Sponsors & Collaborators

  • Genzyme, a Sanofi Company

    collaborator INDUSTRY

  • PTC Therapeutics

    lead INDUSTRY

Principal Investigators

  • Leone Atkinson, MD, PhD · PTC Therapeutics

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
7 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-01-13
Primary Completion
2010-03-23
Completion
2010-03-23

Countries

  • United States
  • United Kingdom

Study Locations

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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 NCT01009294 on ClinicalTrials.gov