Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy

Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research

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Sarepta Therapeutics stock dropped as much as 13 percent Thursday after news emerged that a child participating in a trial of the company's experimental gene therapy for Duchenne muscular dystrophy experienced a serious health complication. Sarepta (Nasdaq: SRPT) has been testing a treatment for the rare disease that would insert a functioning gene into patients with the disease, who have a non-working copy of the gene. The Cambridge biotech's stock quickly dropped Thursday when it was reported…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
The field of biotechs developing treatments for Duchenne muscular dystrophy became more crowded this week, with biotech startup Dyne setting its sights on the muscle-wasting rare disease.
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
AbstractDrug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use of data standards to aggregate data from multiple sources, and the use of such integrated databases to develop statistical models can inform protocol development and reduce the risks in developing new therapies. Achieving regulatory endorsement of such models through defined pathways at the US Food and Drug Administration and European Medicines Authority allows such too...
Source: Journal of Pharmacokinetics and Pharmacodynamics - Category: Drugs & Pharmacology Source Type: research
X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
In this study, we took a non-stringent score (score = 0) as the threshold to investigate the improvement of the calling results. Genotype Quality Genotype Quality (GQ) (Zhang et al., 2013) is used to evaluate the filtering results of DNSNVs, which indicates the quality value of the most likely genotype. The quality value refers the possibility of the genotype being present at the site. The larger value means the greater the likelihood of the genotype. Results To facilitate the appropriate choice of the trio calling pipelines for detecting the DNSNVs, in our study, we firstly evaluated the results of three commonly used...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
CAMBRIDGE, Mass., Feb. 14, 2019 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, announced the Food and Drug Administration, Division of Neurology (the Division), has accepted...
Source: Drugs.com - New Drug Applications - Category: Drugs & Pharmacology Source Type: news
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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