- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03796637
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
March 9, 2022 updated by: PTC Therapeutics
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
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).
Study Overview
Study Type
Interventional
Enrollment (Actual)
6
Phase
- Phase 2
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
California
-
Los Angeles, California, United States, 90025
- University of California, Los Angeles (UCLA)
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Genders Eligible for Study
Male
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: 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.
|
Ataluren will be administered as per the dose and schedule specified in the arm.
Other Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL)
Time Frame: Day 1 of biopsy
|
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 Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Dystrophin Protein Levels as Determined by Immunohistochemistry
Time Frame: Day 1 of biopsy
|
Dystrophin levels by IHC mean membrane stain density are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations).
|
Day 1 of biopsy
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Study Director: Francesco Bibbiani, MD, PTC Therapeutics, Inc.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
April 11, 2019
Primary Completion (Actual)
June 3, 2019
Study Completion (Actual)
June 3, 2019
Study Registration Dates
First Submitted
January 4, 2019
First Submitted That Met QC Criteria
January 4, 2019
First Posted (Actual)
January 8, 2019
Study Record Updates
Last Update Posted (Actual)
April 5, 2022
Last Update Submitted That Met QC Criteria
March 9, 2022
Last Verified
February 1, 2022
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- PTC124-GD-046-DMD
- 2019-001691-11 (EudraCT Number)
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Yes
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Duchenne Muscular Dystrophy
-
Cairo UniversityCompletedMuscular Dystrophy, Duchenne TypeEgypt
-
Chaitanya Hospital, PuneUnknownMuscular Dystrophy | Duchenne Muscular Dystrophy,India
-
Medical University of GdanskRecruitingDuchenne Muscular Dystrophy (DMD)Poland
-
ItalfarmacoCompletedDuchenne Muscular Dystrophy (DMD)Italy
-
Santhera PharmaceuticalsTerminatedDuchenne Muscular Dystrophy (DMD)United States, Spain, Netherlands, Sweden, Germany, France, Belgium, United Kingdom, Italy, Ireland, Switzerland, Austria, Bulgaria, Hungary, Israel
-
Sarepta Therapeutics, Inc.CompletedDuchenne Muscular Dystrophy (DMD)United States
-
Hospital RudolfstiftungOesterreichische MuskelforschungCompletedCarrier of Duchenne Muscular DystrophyAustria
-
General Hospital of Chinese Armed Police ForcesUnknownDuchenne Muscular Dystrophy (DMD)China
-
University of FloridaU.S. Army Medical Research and Development CommandRecruitingDuchenne Muscular Dystrophy (DMD)United States
-
PTC TherapeuticsCompletedNonsene Mutation Duchenne Muscular DystrophyUnited States
Clinical Trials on Ataluren
-
PTC TherapeuticsCystic Fibrosis FoundationCompletedCystic FibrosisUnited States, France, Belgium, Spain, Canada, Germany, Israel, Italy, Netherlands, Sweden, United Kingdom
-
PTC TherapeuticsTerminatedNervous System Diseases | Genetic Diseases, Inborn | Genetic Diseases, X-Linked | Musculoskeletal Diseases | Muscular Diseases | Neuromuscular Diseases | Muscular Dystrophies | Muscular Disorders, Atrophic | Muscular Dystrophy, DuchenneUnited States, Spain, Korea, Republic of, Belgium, France, Canada, Australia, United Kingdom, Israel, Italy, Germany, Brazil, Bulgaria, Chile, Czechia, Poland, Sweden, Switzerland, Turkey
-
PTC TherapeuticsGenzyme, a Sanofi CompanyTerminatedAmino Acid Metabolism, Inborn ErrorsFrance, United Kingdom, Italy, Belgium, Germany, Switzerland
-
PTC TherapeuticsEnrolling by invitationDuchenne Muscular DystrophyUnited States, Canada
-
PTC TherapeuticsCompletedDuchenne Muscular DystrophyUnited States
-
PTC TherapeuticsGenzyme, a Sanofi CompanyTerminatedDuchenne Muscular DystrophyUnited States
-
PTC TherapeuticsGenzyme, a Sanofi CompanyTerminatedDuchenne Muscular Dystrophy | Becker Muscular DystrophyUnited States, Belgium, Australia, Canada, France, Germany, Israel, Italy, Spain, Sweden, United Kingdom
-
PTC TherapeuticsCompletedDuchenne Muscular DystrophyUnited States
-
PTC TherapeuticsCompletedDuchenne Muscular Dystrophy | Becker Muscular DystrophyUnited States, Germany, Spain, Sweden, Canada, Italy, Australia, Belgium, France, Israel, United Kingdom
-
PTC TherapeuticsCompletedNonsene Mutation Duchenne Muscular DystrophyUnited States