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Abstract Details

Preservation of Function over time as Measured by North Star Ambulatory Assessment in Ambulatory Boys with Nonsense Mutation Muscular Dystrophy Treated with Ataluren
Child Neurology and Developmental Neurology
S51 - Child Neurology: Bench to Bedside: Progress in Treating Genetic Disorders (4:03 PM-4:14 PM)
004
Ataluren is the first drug approved to treat the underlying cause of disease in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD), by promoting readthrough of a nonsense mutation to produce full-length functional dystrophin protein. ACT DMD was a 48-week, multicenter, randomized, double-blind, placebo-controlled study that compared the efficacy and safety of ataluren vs placebo in ambulatory boys with nmDMD.
To assess whether ataluren can preserve physical function in boys with nmDMD.

ACT DMD enrolled boys aged 7−16 years with nmDMD, a baseline 6-minute walk distance (6MWD) of 150 m or more and having ≤80% of the predicted normal value at baseline (n=228).  The North Star Ambulatory Assessment (NSAA) is a validated tool that assesses disease progression in ambulatory boys with DMD. NSAA is comprised of 17 tasks that patients are evaluated on at each clinic visit, with the possible values for each item being 0, 1, or 2, where 0=unable to perform task, 1=performs with difficulty and 2=able to perform.  In this analysis, loss of function (failures) from 17 tasks was evaluated for each patient (i.e., 2 to 0, or 1 to 0) at various time points over the entire study duration. The average cumulative number of failures over time was then obtained over all patients in each treatment group, and was plotted to show the temporal profile of treatment.

The curve for the placebo was uniformly higher than that of ataluren. The ratio of the above two curves was used as an overall measure of treatment effect (i.e., treatment divided by placebo). This analysis resulted in a ratio of 0.73 (95% CI, 0.55-0.97; p=0.027), indicating that ataluren treatment significantly reduces the cumulative number of failures by 27% over 48 weeks compared to placebo.

The results suggest preservation of physical function with ataluren therapy in ambulatory boys with nmDMD.

Authors/Disclosures
Craig McDonald, MD (UC Davis Dept. of PM&R)
PRESENTER
Dr. McDonald has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Sarepta Therapeutics. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for PTC Therapeutics. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Solid Biosciences. Dr. McDonald has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta Therapeutics. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Solid Biosciences. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Edgewise Therapeutics. The institution of Dr. McDonald has received research support from Sarepta Therapeutics. The institution of Dr. McDonald has received research support from PTC Therapeutics. The institution of Dr. McDonald has received research support from Edgewise Therapeutics. The institution of Dr. McDonald has received research support from Capricor Therapeutics. The institution of Dr. McDonald has received research support from Italfarmaco. Dr. McDonald has received research support from NS Pharma. The institution of Dr. McDonald has received research support from NIH (NINDS). The institution of Dr. McDonald has received research support from Parent Project Muscular Dystrophy. The institution of Dr. McDonald has received research support from Muscular Dystrophy Association. Dr. McDonald has received personal compensation in the range of $500-$4,999 for serving as a Member National Advisory Board for Medical Rehabilitation Research with NIH.
No disclosure on file
No disclosure on file
Traci Schilling No disclosure on file
Panayiota Trifillis Panayiota Trifillis has received personal compensation for serving as an employee of PTC Therapeutics. Panayiota Trifillis has received stock or an ownership interest from PTC Therapeutics, Inc.. Panayiota Trifillis has received intellectual property interests from a discovery or technology relating to health care.
No disclosure on file
Marcio N. Souza, MD (MRNeuro) Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Lilly. Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Novartis. Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for TEVA. Dr. Souza has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Libbs. Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Abbvie.
Stuart Peltz No disclosure on file
Francesco Muntoni, MD (UCL Institute of Child Health) Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sarepta. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Muntoni has received research support from European Commission. The institution of Dr. Muntoni has received research support from Medical Research Council. The institution of Dr. Muntoni has received research support from Biogen. The institution of Dr. Muntoni has received research support from Muscular Dystrophy UK. The institution of Dr. Muntoni has received research support from MDA USA. The institution of Dr. Muntoni has received research support from Sarepta. The institution of Dr. Muntoni has received research support from Association Francoise Myopathies. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving as a Clinical expert with UK NICE Committee.