Resultados de búsqueda
Filtrar por áreas temáticas
A movement to create a global patient registry for as many as 7,000 rare diseases was launched at a workshop, “Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data.” https://rarediseases.info.nih.gov/. The workshop was sponsored by the Office of Rare Diseases Research (ORDR). The focus was the building of an infrastructure […]
…Like many rare diseases, eosinophilic esophagitis (EoE) is a poorly understood disorder, and assessment tools to accurately determine disease activity, remission, and natural history have long been inadequate. Clinical outcome end points able to assess the effectiveness of candidate therapeutic agents in clinical trials have been a particular deficiency and are urgently needed. With no […]
…In this article, we present descriptive data on 125 crowdfunding campaigns aimed at financing research in oncology (including basic research, drug discovery, and clinical trials). We also describe five campaigns that have succeeded in raising substantial funds to support the development of treatments for ultrarare diseases. The data suggest that crowdfunding is a viable approach […]
…Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Unico de Saude) but, as in many other middle and low income countries, access to medical genetics services is limited in […]
…The BURQOL-RD project is intended to develop a disease based model capable of quantifying the socio-economic burden and health-related quality of life for patients with rare diseases (RDs) and their caregivers in Europe. We described the methodology used to select a set of 10 RDs to be approached in a pilot study.BURQOL-RD project includes 23 […]
…The literature indicates that the expenditure on orphan drugs will be increasing over the coming years. The market for orphan drugs has inherent market characteristics that sometimes result in high prices. The aim of this study was to analyse whether awarding orphan designation status has an influence on the price setting of drugs for rare […]
…Worldwide, there are an estimated 6000 to 7000 rare diseases. Patients face special difficulties in obtaining an accurate diagnosis, adequate information about the disease, and access to qualified specialists. Drug companies do not spontaneously conduct research on drugs for rare diseases, mainly because of the limited market for each indication. Only a few dozen of […]
…Orphan Drug legislation in the USA, Europe and elsewhere has been incredibly successful in promoting the development of new treatments for rare diseases. Historically, payers have constructed special schemes that have facilitated patient access given the small total budget impact of these treatments. However, whilst each disease is rare, the number of licensed orphan drugs […]
…Recruitment of pediatric patients in randomized clinical trials is hampered by the rarity of many conditions and by ethical constraints. The objective of this paper is to give an overview of design options to obtain a statistically valid result while including a minimum number of subjects.Overview and discussion of several approaches to conduct valid randomized […]
…We report on a series of 514 consecutive diagnoses of skeletal dysplasia made over an 8-year period at a tertiary hospital in Kerala, India. The most common diagnostic groups were dysostosis multiplex group (n = 73) followed by FGFR3 (n = 49) and osteogenesis imperfecta and decreased bone density group (n = 41). Molecular confirmation […]
…