Resultados de búsqueda por tipo de discapacidad
Filtrar por tipo de discapacidad
Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. We addressed this challenge by combining samples collected within the […]
…Strategies for study recruitment are useful in clinical research network settings. We describe a registry of individuals who have self-identified with one of a multiplicity of rare diseases, and who express a willingness to be contacted regarding possible enrollment in clinical research studies. We evaluate this registry and supporting tools in terms of registry enrollment […]
…Strategies to enhance recruitment are useful in clinical research network settings. Our network data center maintains a Contact Registry of patients who express a willingness to be contacted to enroll in clinical studies. An automated system generates periodic and customized communications to notify registrants of potential studies and network events. The majority of these communications […]
…For rare diseases it may be difficult to generate data from randomized trials to support funding of a drug. Enzyme replacement therapies for diseases of inherited metabolic enzyme deficiency provide an example of this dilemma. The Ontario Public Drug Programs convened the Drugs for Rare Diseases Working Group to develop a policy for assessing these […]
…Animal models are important tools in the discovery and development of treatments for rare diseases, particularly given the small populations of patients in which to evaluate therapeutic candidates. Here, we provide a compilation of mammalian animal models for metabolic, neuromuscular and ophthalmological orphan-designated conditions based on information gathered by the European Medicines Agency’s Committee for […]
…In many countries, decisions about the public funding of drugs are preferentially based on the results of randomized trials. For truly rare diseases, such trials are not typically available, and approaches by public payers are highly variable. In view of this, a policy framework intended to fairly evaluate these drugs was developed by the Drugs […]
…Orphan medicinal products (OMPs) are targeted at the diagnosis, prevention or treatment of rare diseases and have a special status in European law. This status brings incentives for pharmaceutical companies to invest in OMP development. The goal of the legislation is to encourage the development of more treatments for life-threatening rare disorders, but increased availability […]
…Long non-coding RNAs (lncRNAs) are untranslated transcripts with longer than 200 nucleotides (nt), which possess many of the structural characteristics of mRNAs, including a poly A tail, 5′-capping, and a promoter structure, but no conserved open reading frame. Moreover, lncRNA expression patterns change during differentiation and exhibit a variety of splicing patterns. Many lncRNAs are […]
…Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the National Human Genome Research Institute (NHGRI), and in part by […]
…