A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren

NCT ID: NCT03796637

Last Updated: 2022-04-05

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 6 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2019-04-11
• Study Completion Date: 2019-06-03

Brief Summary

This study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants. This study will evaluate dystrophin levels from participants with nmDMD who currently have been receiving ataluren for ≥9 months.

The study will have a single visit (Visit 1).

Conditions

Duchenne Muscular Dystrophy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

nmDMD Participants

Participants who have been receiving ataluren, will be dosed daily 10 milligrams per kilogram (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening, for \>=9 months from ongoing PTC-sponsored nmDMD clinical trials.

Group Type: EXPERIMENTAL

Ataluren

Intervention Type: DRUG

Ataluren will be administered as per the dose and schedule specified in the arm.

Interventions

Ataluren

Ataluren will be administered as per the dose and schedule specified in the arm.

Intervention Type: DRUG

Other Intervention Names

PTC124

Eligibility Criteria

Inclusion Criteria

• Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial.
• Ambulatory (10 meters walk/run in less than [<] 30 seconds) and functional grade on the Brooke Upper Extremity Scale of a 1 or a 2.
• Currently being treated with ataluren 10, 10, 20 mg/kg for >=9 months, with no gap in treatment of greater than (>) 1 month, in an ongoing PTC-sponsored nmDMD clinical trial prior to study entry.
• Phenotypic evidence of duchenne muscular dystrophy (DMD) based on the onset of characteristic clinical symptoms or signs (for example, proximal muscle weakness, waddling gait, and Gowers' maneuver) by 6 years of age and an elevated serum creatine kinase (CK). Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the medical monitor.
• Willing to undergo muscle biopsy.

Exclusion Criteria

• Known contra-indication to muscle biopsy (such as bleeding or clotting disorders).
• Exposure to another investigational drug within 2 months prior to study enrollment or ongoing participation in any non-ataluren interventional clinical trial.
• Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. Note: Evening non-invasive mechanical ventilation such as use of bilevel positive airway pressure (Bi-PAP) therapy is allowed.
• Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder), medical history, physical findings or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.

• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

PTC Therapeutics

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Francesco Bibbiani, MD

Role: STUDY_DIRECTOR

PTC Therapeutics, Inc.

Locations

University of California, Los Angeles (UCLA)

Los Angeles, California, United States

Countries

United States

Provided Documents

Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

2019-001691-11

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

PTC124-GD-046-DMD

Identifier Type: -

Identifier Source: org_study_id