FDA Speeds Innovation in Rare Disease Therapies

The Food and Drug Administration Office of Orphan Products Development is launching web-based educational resources for patients and industry on rare disease topics. The page debuts on International Rare Disease Day Feb. 28; topics include how to interact with FDA.
Source: FDA Consumer Health Information Updates - Category: Consumer Health News Authors: Source Type: news

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Biopharma Global, a Tysons-based regulatory affairs firm, is helping small companies focused on rare diseases pursue accelerated approval pathways.
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
Authors: Pierri F, Dufour C Abstract Introduction: About 60% of aplastic anemia (AA) patients are in need of further treatment after front line standard immunosuppressive therapy (IST). This along with the prolonged survival of AA subjects who do not respond to or relapse after this treatment makes management of these patients a rising and very challenging issue. Areas Covered: Literature research, carried out from the most commonly used data bases, included the following key words: aplastic anemia, immunosuppressive treatment, Anti Thymocyte Globuline, Ciclosporine A, refractory aplastic anemia, relapsing aplastic...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Authors: Clay A, Hearle P, Schadt K, Lynch DR Abstract Introduction: Friedreich ataxia (FRDA), a rare disease caused by the deficiency of the mitochondrial matrix protein frataxin, affects roughly 1 in 50,000 individuals worldwide. Current and emerging therapies focus on reversing the deleterious effects of such deficiency including mitochondrial augmentation and increasing frataxin levels, providing the possibility of treatment options for this physiologically complex, multisystem disorder. Areas covered: In this review article, the authors discuss the current and prior in vivo and in vitro research studies relate...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
Authors: Kim J, Lee K, Lee W Abstract Eosinophilic esophagitis is a rare disease in Asian countries, but its incidence is growing rapidly in Western countries. The main pathophysiology of eosinophilic esophagitis is esophageal epithelial barrier dysfunction; disruption of the esophageal epithelial barrier easily induces antigen sensitization to foods and aeroallergens, which leads to subsequent esophageal inflammation as a result of eosinophil recruitment. Here we report a case of an 11-year-old Korean boy who suffered from fever, odynophagia, dysphagia, and chest pain. His upper endoscopic findings showed longitud...
Source: Clinical Endoscopy - Category: Gastroenterology Tags: Clin Endosc Source Type: research
Sleep in Rare Disease  (study page |release notes)
Source: dbGaP, the database of Genotypes and Phenotypes - Category: Genetics & Stem Cells Tags: StudyRelease Source Type: research
Condition:   Rare Diseases Interventions:   Biological: Biological samples;   Genetic: Genetic test Sponsor:   Centre Hospitalier Universitaire Dijon Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
We report the case of a 61 year old man who presented with irritative voiding symptoms and gross hematuria. Cystoscopy showed diffuse urothelial erythema and a posterior bladder wall ulcer. Bladder biopsy revealed marked eosinophilic cystitis with ulceration. Urine culture grew Candida glabrata. After treatment with oral fluconazole, his voiding symptoms resolved and subsequent bladder biopsy revealed a complete dearth of eosinophils. This is the first case report linking eosinophilic cystitis to Candida glabrata.
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Publication date: Available online 17 July 2019Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral RadiologyAuthor(s): Hercílio Martelli Júnior
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
BACKGROUND: Surfer's myelopathy is a non-traumatic spinal cord injury that was first described in a publication in 2004. However, most emergency physicians are not familiar with this rare disease. CASE PRESENTATION: The patient was a 19-year-old female nov...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Recreational and Sports Issues Source Type: news
Two important publications have recently highlighted the study of rare diseases and the collaboration of studying these conditions.1,2 A rare disease affects fewer than 200,000 people in the United States, less than 250,000 people in the European Union and under 50,000 patients in Japan.1 The concept of rare disease, according to the World Health Organization and adopted by the Ministry of Health of Brazil, refers to a disorder that affects up to 65 people in every 100,000 individuals, i.e. 1.3 for every 2,000 people (http://portalms.saude.gov.br/saude-de-a-z/doencas-raras).
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: Letter To The Editor Source Type: research
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