Resultados de búsqueda por tipo de discapacidad
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Our objective was to analyse the coverage of hospital discharge data and the mortality registry (MR) of La Rioja to ascertain motor neuron disease (MND) cases to be included in the Spanish National Rare Diseases Registry. MND cases that occurred in La Rioja during the period 1996-2011 were selected from hospital discharge data and the […]
…The development of drug and biological products intended to treat rare diseases (Orphan diseases) is one of the fastest growing areas of clinical research, and also one of the most challenging. This article provides an introduction to two important regulatory considerations for Orphan drugs: Orphan status designations and general considerations for the administration of investigational […]
…Background In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage renal disease (ESRD) population is limited. The aims of this study were (i) […]
…This paper aims to describe a general demographic picture of patients with rare diseases in Taiwan and particularly focuses on the prevalence of rare diseases over time, age and gender distributions. We analyzed data mainly from the national disability registry from 2002 to 2011 in Taiwan, Republic of China. The results showed that the number […]
…Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health information systems and for research is to share and/or to integrate data coming from heterogeneous sources with diverse reference terminologies. ORPHANET (www.orpha.net) is a multilingual information portal on rare diseases and orphan drugs. Orphanet […]
…The acceleration of clinical trials studying rare diseases over the past 3 decades has occurred largely because of the Orphan Drug Act, which was enacted in 1983 as a result of patient advocacy groups working with congressional sponsors. This act facilitated the development and commercialization of products (drugs, vaccines, and diagnostic agents) to treat populations […]
…Centers of expertise (CoE) are vital to the care and treatment of patients with rare diseases and play a central role in generating medical and scientific knowledge. This study explores the relationship between a CoEs internal resource availability, operational experience and functional network integration and its research performance.Hypotheses were tested based on a sample of […]
…This report describes the general characteristics, objectives and organizational aspects of the registries of rare respiratory diseases included in the National Registry of Rare Diseases of the Research Institute for Rare Diseases (ISCIII), in order to publicize their existence and encourage the participation of professionals. Information is collected on the following conditions: alpha-1 antitrypsin deficiency, […]
…To explore parental perceptions and experiences regarding the return of genomic incidental research findings in children with rare diseases.Parents of children affected by various rare diseases were invited to participate in focus groups or individual telephone interviews in Montreal and Ottawa. Fifteen participants were interviewed and transcriptions were analysed using thematic analysis.Four emergent themes underscored […]
…A rare disease is a pattern of symptoms that afflicts less than five in 10,000 patients. However, as about 6,000 different rare disease patterns exist, they still have significant epidemiological relevance. We focus on rare diseases that affect multiple organs and thus demand that multidisciplinary healthcare professionals (HCPs) work together. In this context, standardized healthcare […]
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