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

NCT03796637 | Completed Phase 2 Results FDA Drug

• 2 other identifiers: PTC124-GD-046-DMD2019-001691-11
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL)

  The mean dystrophin protein levels were measured by ECL. Dystrophin levels are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations). Results below the limit of quantitation were imputed as half of lower limit of quantitation (LLOQ). LLOQ = 0.5 micrograms (μg)/milliliter (mL)

  Day 1 of biopsy

Secondary Outcomes (1)

• Dystrophin Protein Levels as Determined by Immunohistochemistry

  Day 1 of biopsy

Study Arms (1)

nmDMD Participants

EXPERIMENTAL

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.

Drug: Ataluren

Interventions

Ataluren DRUG

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

Also known as: PTC124

nmDMD Participants

Eligibility Criteria

• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• PTC Therapeutics: lead

Study Sites (1)

University of California, Los Angeles (UCLA)

Los Angeles, California, 90025, United States

Location

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Interventions

ataluren

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Results Point of Contact

• Title: Medical Information
• Organization: PTC Therapeutics, Inc.

medinfo@ptcbio.com

1-866-562-4620

Study Officials

• Francesco Bibbiani, MD

  PTC Therapeutics, Inc.

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 4, 2019
• First Posted: January 8, 2019
• Study Start: April 11, 2019
• Primary Completion: June 3, 2019
• Study Completion: June 3, 2019
• Last Updated: April 5, 2022
• Results First Posted: April 5, 2022

Record last verified: 2022-02

Locations

US (1)