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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
20
Ataluren will be administered as per the dose and schedule specified in the arm.
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
Percent Change From Baseline in Dystrophin Level at Week 40, as Measured by ECL
The percent change in dystrophin level from baseline in ambulatory nonsense mutation duchenne muscular dystrophy (nmDMD) participants after treatment with ataluren for 40 weeks was analyzed using quantitative assay (ECL).The least square (LS) mean and 90% confidence interval (CI) were analyzed from a mixed-model repeated measures (MMRM) with factors of muscle locations and visits as fixed effects, and participants as a random effect.
Time frame: Baseline, Week 40
Percent Change From Baseline in Dystrophin Level at Week 40, as Determined by Immunohistochemistry (IHC) Membrane Stain Density
The percent change in dystrophin level from baseline in ambulatory nmDMD participants after 40 weeks of ataluren therapy was determined by IHC membrane stain density. The LS mean and 90% CI were analyzed from an MMRM with factors of muscle locations and visits as fixed effects, and participants as a random effect.
Time frame: Baseline, Week 40
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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