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Tucson, AZ, United States

Griggs R.C.,University of Rochester | Herr B.E.,University of Rochester | Reha A.,PTC Therapeutics | Elfring G.,PTC Therapeutics | And 7 more authors.
Muscle and Nerve

Introduction: In 2004, a Cochrane Review and AAN practice parameter concluded that prednisone 0.75 mg/kg/day is of short-term efficacy in Duchenne muscular dystrophy (DMD). Subsequent efforts to standardize care for DMD indicated wide variation in corticosteroid use. Methods: We surveyed physicians who follow patients with DMD, including: (1) clinics in the TREAT-NMD (Translational Research in Europe-Assessment and Treatment of Neuromuscular Diseases) network (predominantly Europe) and (2) U.S. MDA clinic directors. We also documented the co-administered corticosteroids in a trial of a putative treatment (ataluren) for DMD. Results: Of 105 Treat-NMD clinicians, corticosteroids were not used in 10 clinics, and 29 different regimens were used-the most frequent 0.75 mg/kg/day prednisone (61 centers); 10 days on/10 days off (36 centers); 0.9 mg/kg/day deflazacort (32 centers); and 5 mg/kg/day on weekends (10 centers). Similar diversity was identified in MDA clinics and in the ataluren trial. Conclusions: Variability in corticosteroid use suggests uncertainty about risks/benefits of corticosteroid regimens for DMD. © 2013 Wiley Periodicals, Inc. Source

Cudkowicz M.E.,Massachusetts General Hospital | Katz J.,California Pacific Medical Center | Moore D.H.,California Pacific Medical Center | O'Neill G.,BiogenIdec | And 16 more authors.
Amyotrophic Lateral Sclerosis

More than 30 phase II or III clinical trials have been carried out in amyotrophic lateral sclerosis (ALS). Only riluzole, however, has been shown to extend survival and/or time to tracheostomy. Many early ALS trials lacked solid pharmacodynamic and pharmacokinetic data for the treatment being tested, challenging the interpretation of the efficacy and pathway relevance. Understanding of the genetics and pathophysiology of ALS has improved considerably in the past decade, but biomarkers of disease activity remain lacking. A more efficient approach to early phase clinical trials is needed to accelerate the identification of useful agents for ALS. Here we summarize our current thinking about phase II design options and the potential benefits of a clinical trial network for phase II trials in ALS. © 2010 Informa UK Ltd. Source

Cheever T.R.,U.S. National Institutes of Health | Berkley D.,U.S. National Institutes of Health | Braun S.,Association Franc aise Contre les Myopathies | Brown R.H.,University of Massachusetts Medical School | And 24 more authors.
Human Gene Therapy

With recent successes in gene therapy trials for hemophilia and retinal diseases, the promise and prospects for gene therapy are once again garnering significant attention. To build on this momentum, the National Institute of Neurological Disorders and Stroke and the Muscular Dystrophy Association jointly hosted a workshop in April 2014 on "Best Practices for Gene Therapy Programs," with a focus on neuromuscular disorders. Workshop participants included researchers from academia and industry as well as representatives from the regulatory, legal, and patient advocacy sectors to cover the gamut from preclinical optimization to intellectual property concerns and regulatory approval. The workshop focused on three key issues in the field: (1) establishing adequate scientific premise for clinical trials in gene therapy, (2) addressing regulatory process issues, and (3) intellectual property and commercialization issues as they relate to gene therapy. The outcomes from the discussions at this workshop are intended to provide guidance for researchers and funders in the gene therapy field. Copyright 2015, Mary Ann Liebert, Inc. Source

Kwon J.M.,University of Rochester | Abdel-Hamid H.Z.,University of Pittsburgh | Al-Zaidy S.A.,Nationwide Childrens Hospital | Mendell J.R.,Ohio State University | And 7 more authors.
Muscle and Nerve

New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186–191, 2016. © 2016 Wiley Periodicals, Inc. Source

Bann C.M.,Rti International | Abresch R.T.,Bethesda University of California | Biesecker B.,National Human Genome Research Institute | Conway K.C.,University of Iowa | And 11 more authors.

Objectives: The objectives of this study were to develop a conceptual model of quality of life (QOL) in muscular dystrophies (MDs) and review existing QOL measures for use in the MD population. Methods: Our model for QOL among individuals with MD was developed based on a modified Delphi process, literature review, and input from patients and patient advocacy organizations. Scales that have been used to measure QOL among patients with MD were identified through a literature review and evaluated using the COSMIN (Consensus-Based Standards for the Selection of Health Measurement Instruments) checklist. Results: The Comprehensive Model of QOL in MD (CMQM) captures 3 broad domains of QOL (physical, psychological, and social), includes factors influencing self-reported QOL (disease-related factors, support/resources, and expectations/aspirations), and places these concepts within the context of the life course. The literature review identified 15 QOL scales (9 adult and 6 pediatric) that have been applied to patients with MD. Very few studies reported reliability data, and none included data on responsiveness of the measures to change in disease progression, a necessary psychometric property for measures included in treatment and intervention studies. No scales captured all QOL domains identified in the CMQM model. Conclusions: Additional scale development research is needed to enhance assessment of QOL for individuals with MD. Item banking and computerized adaptive assessment would be particularly beneficial by allowing the scale to be tailored to each individual, thereby minimizing respondent burden. © 2015 American Academy of Neurology. Source

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