A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

NCT ID: NCT03648827

Last Updated: 2022-04-05

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 20 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2018-12-21
• Study Completion Date: 2020-10-23

Brief Summary

This study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD. The study will evaluate the levels of dystrophin before and after 40 weeks of ataluren therapy using muscle biopsies and 2 validated assay methods, electrochemiluminescence (ECL) and immunohistochemistry.

Conditions

Duchenne Muscular Dystrophy

Study Design

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

Study Groups

Ataluren

Participants will receive ataluren oral suspension 10 milligrams per kilogram (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 40 weeks.

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.
• 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) and an elevated serum creatine kinase (CK). Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the Sponsor's medical monitor.
• Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing. Review and approval of documentation by sponsor or designee is required prior to enrollment.
• Willing to undergo muscle biopsy.

Exclusion Criteria

• Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy.
• Known contra-indication to muscle biopsy (such as bleeding or clotting disorders).
• Prior or ongoing therapy with ataluren.
• Known hypersensitivity to any of the ingredients or excipients of the study drug (for example, refined polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, colloidal silica, magnesium stearate).
• Exposure to another investigational drug within 2 months prior to start of study treatment, or ongoing participation in any interventional clinical trial.
• Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. Evening non-invasive mechanical ventilation such as use of bilevel positive airway pressure (Bi-PAP) therapy is allowed.
• Elevated serum creatinine or cystatin C levels at screening.
• 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.

• Minimum Eligible Age: 2 Years
• Maximum Eligible Age: 7 Years
• 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

Phoenix Childrens Hospital

Phoenix, Arizona, United States

University of California, Los Angeles (UCLA)

Los Angeles, California, United States

University of California (UC) Davis Medical Center

Sacramento, California, United States

University of Kansas Medical Center

Kansas City, Kansas, United States

University of Minnesota

Minneapolis, Minnesota, United States

Columbia University College of Physicians & Surgeons

New York, New York, United States

Texas Children's Hospital

Houston, Texas, United States

University of Texas Heath Science Center at San Antonio

San Antonio, Texas, United States

Children's Hospital of the King's Daughters

Norfolk, Virginia, United States

Countries

United States

Provided Documents

Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

2019-001767-67

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

PTC124-GD-045-DMD

Identifier Type: -

Identifier Source: org_study_id