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

Duchenne Muscular Dystrophy Clinical Trial

Official title:

Phase 2, Non-Interventional, Clinical Study to Assess Dystrophin Levels in Subjects With Nonsense Mutation Duchenne Muscular Dystrophy Who Have Been Treated With Ataluren for ≥9 Months

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03796637
• Other study ID #: PTC124-GD-046-DMD
• Secondary ID: 2019-001691-11
• Status: Completed
• Phase: Phase 2
• Start date: April 11, 2019
• Est. completion date: June 3, 2019

Study information

• Verified date: February 2022
• Source: PTC Therapeutics
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 6
• Est. completion date: June 3, 2019
• Est. primary completion date: June 3, 2019
• Accepts healthy volunteers: No
• Gender: Male
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Intervention

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

Locations

Country	Name	City	State
United States	University of California, Los Angeles (UCLA)	Los Angeles	California

Sponsors (1)

Lead Sponsor	Collaborator
PTC Therapeutics

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Dystrophin Protein Levels as Determined by Immunohistochemistry	Dystrophin levels by IHC mean membrane stain density are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations).	Day 1 of biopsy