Ataluren treatment of patients with nonsense mutation dystrophinopathy
| العنوان: | Ataluren treatment of patients with nonsense mutation dystrophinopathy |
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| المؤلفون: | Katharine, Bushby, Richard, Finkel, Brenda, Wong, Richard, Barohn, Craig, Campbell, Giacomo P, Comi, Anne M, Connolly, John W, Day, Kevin M, Flanigan, Nathalie, Goemans, Kristi J, Jones, Eugenio, Mercuri, Ros, Quinlivan, James B, Renfroe, Barry, Russman, Monique M, Ryan, Mar, Tulinius, Thomas, Voit, Steven A, Moore, H, Lee Sweeney, Richard T, Abresch, Kim L, Coleman, Michelle, Eagle, Julaine, Florence, Eduard, Gappmaier, Allan M, Glanzman, Erik, Henricson, Jay, Barth, Gary L, Elfring, Allen, Reha, Robert J, Spiegel, Michael W, O'donnell, Stuart W, Peltz, Craig M, Mcdonald, Kathleen, Ollendick |
| المصدر: | Paediatrics Publications Muscle & Nerve |
| بيانات النشر: | Wiley, 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Male, Pediatrics, Time Factors, Physiology, International Cooperation, Duchenne muscular dystrophy, nonsense mutation, Walking, Dystrophin, Orphan, chemistry.chemical_compound, 0302 clinical medicine, Outcome Assessment, Health Care, Clinical endpoint, Muscular Dystrophy, Prospective Studies, Child, Prospective cohort study, Pediatric, Oxadiazoles, 0303 health sciences, Nonsense mutation, 3. Good health, Codon, Nonsense, Child, Preschool, Drug, medicine.medical_specialty, Adolescent, Muscle disorder, Eteplirsen, Placebo, Dose-Response Relationship, Outcome Assessment (Health Care), 03 medical and health sciences, Cellular and Molecular Neuroscience, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Genetic, Physiology (medical), medicine, Humans, Preschool, Codon, 030304 developmental biology, Dose-Response Relationship, Drug, business.industry, Main Articles, Duchenne, medicine.disease, orphan, Ataluren, Muscular Dystrophy, Duchenne, pediatric, Nonsense, chemistry, Neurology (clinical), genetic, business, 030217 neurology & neurosurgery |
| الوصف: | Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double-blind, placebo-controlled study; males ≥5 years with nm-dystrophinopathy received study drug orally 3 times daily, ataluren 10, 10, 20 mg/kg (N = 57); ataluren 20, 20, 40 mg/kg (N = 60); or placebo (N = 57) for 48 weeks. The primary endpoint was change in 6-Minute Walk Distance (6MWD) at Week 48. Results: Ataluren was generally well tolerated. The primary endpoint favored ataluren 10, 10, 20 mg/kg versus placebo; the week 48 6MWD Δ = 31.3 meters, post hoc P = 0.056. Secondary endpoints (timed function tests) showed meaningful differences between ataluren 10, 10, 20 mg/kg, and placebo. Conclusions: As the first investigational new drug targeting the underlying cause of nm-dystrophinopathy, ataluren offers promise as a treatment for this orphan genetic disorder with high unmet medical need. Muscle Nerve 50: 477–487, 2014 |
| وصف الملف: | application/pdf |
| تدمد: | 1097-4598 0148-639X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0578329d6b528d6b608a1d76377c5da7Test https://doi.org/10.1002/mus.24332Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0578329d6b528d6b608a1d76377c5da7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10974598 0148639X |
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