Resultados de búsqueda
Filtrar por áreas temáticas
Small area variations in healthcare infrastructure may result in differences in early detection and outcomes for patients with rare diseases.It is our aim to provide a framework for evaluating small area variations in healthcare infrastructure on the diagnostics and health outcomes of rare diseases. We focus on administrative data as it allows (a) for relatively […]
…Rare diseases are frequently life-threatening or chronically debilitating and the impact on the quality of life of affected patients and their family members is thus significant. However, drug development for these conditions has been limited by a lack of understanding of the underlying mechanisms of disease and the relative unavailability of subjects for clinical trials, […]
…Although rare disease patients make up approximately 6-8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. […]
…The authors describe the view of patients and patient organisations on gene therapy research and gene therapy regulations. In particular, the added value of partnership between scientists and patient organisations, and patient involvement in the gene therapy field, are addressed. Resumen realizado por los autores recogido de la publicación
…Although rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring to a sizable group of unrelated rare diseases.Data from the rare diseases registry established in the Veneto Region of north-east Italy (population 4,900,000), […]
…Rare diseases attract very little interest for drug development. To create more favourable conditions, incentives for development (scientific advice, research grants) and marketing of medicines (market exclusivity, regulatory fee reductions) are offered by several orphan legislations. These incentives have proven to be a valuable stimulus for research and development for new products for treatment, prevention […]
…Patients with rare diseases have limited access to useful information to guide treatment decisions. Engagement of patients and other stakeholders in clinical research may help to ensure that research efforts in rare diseases address relevant clinical questions and patient-centered health outcomes. Rare disease organizations may provide an effective means to facilitate patient engagement in research. […]
…Changes in regulatory policy and legislative incentives to promote the development of drugs for rare diseases – orphan drugs – have led to increases in the number of orphan drug designations, but the rate of such products reaching the market remains frustratingly flat. This article highlights areas in which novel approaches could facilitate regulatory approval […]
…There is growing recognition that the current research-and-development (R&D) and innovation-regulation ecosystem could be made more efficient to stimulate and support access to innovative therapies for those patients with rare, life-threatening diseases for which there are no adequate licensed therapies. New and progressive thinking on the principles and processes of drug development and regulation are […]
…