A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
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|ClinicalTrials.gov Identifier: NCT03796637|
Recruitment Status : Recruiting
First Posted : January 8, 2019
Last Update Posted : September 12, 2019
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 greater than or equal to (>=) 9 months.
The study will have a single visit (Visit 1).
|Condition or disease||Intervention/treatment|
|Duchenne Muscular Dystrophy||Other: Dystrophin levels|
|Study Type :||Observational|
|Estimated Enrollment :||6 participants|
|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|
|Actual Study Start Date :||April 11, 2019|
|Estimated Primary Completion Date :||September 30, 2019|
|Estimated Study Completion Date :||September 30, 2019|
Participants who have been receiving ataluren, 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.
Other: Dystrophin levels
Dystrophin levels of participants who have previously received at least 9 months of treatment with ataluren.
- Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL) [ Time Frame: Visit 1 (Day 1) ]ECL technology will be used to measure dystrophin protein levels. It is a highly sensitive, quantitative assay with a low background.
- Dystrophin Protein Levels as Determined by Immunohistochemistry [ Time Frame: Visit 1 (Day 1) ]Immunohistochemistry will semi-quantitatively assess dystrophin protein levels and evaluate whether the dystrophin protein is correctly localized to the membrane of the muscle cell, consistent with a functional protein.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03796637
|Contact: Senior VP Corporate Relationsfirstname.lastname@example.org|
|Contact: Medical Informationemail@example.com|
|United States, California|
|University of California, Los Angeles (UCLA)||Recruiting|
|Los Angeles, California, United States, 90025|
|Contact: Emilie Douine 310-267-2416 firstname.lastname@example.org|
|Principal Investigator: Stanley Nelson|
|Study Director:||Francesco Bibbiani, MD||PTC Therapeutics, Inc.|