It is very difficult to do clinical research on rare diseases; rareness means small numbers of patients, who usually are dispersed among geographically scattered medical centers. This chapter reports on a case study of the Rare Disease Clinical Research Network (RDCRN)'s Urea Cycle Disorders ...
In response to the Rare Diseases Act of 2002, the National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network (RDCRN) to address the unique challenges of performing research on rare diseases.1This was undertaken using a cooperative agreement mechanism, firmly establishi...
Among the unique features of the Rare Diseases Clinical Research Network (RDCRN) Program is the requirement for each Consortium to include patient advocacy groups (PAGs) as research partners. This development has transformed the work of the RDCRN and is a model for collaborative research. This art...
The Rare Diseases Clinical Research Network (RDCRN) Contact Registry has grown in size and scope since it was first reported in this journal in 2007. In this paper, we reflect on our seven years' experience developing and expanding the RDCRN Contact Registry to include many more rare diseases....
RDCRNRare Diseases Clinical Research NetworkRare Diseases Clinical Research NetworkUCDUrea cycle disorderUrea cycle disorderTo prospectively characterize acute hyper... PJ Mcguire,HS Lee,ML Summar - 《Journal of Pediatrics》 被引量: 39发表: 2013年 Rare inborn errors of metabolism with movement disorders...
84 To achieve this goal, NORD and the Rare Disease Clinical Research Network (RDCRN)85 at the National Center for Advancing Translational Sciences (NCATS) have curated RD registries that are available for patients, researchers, and clinicians.86 Such registries not only facilitate communication ...
Responding to a congressional initiative to promote clinical research for rare diseases – that collectively affect approximately 25 million Americans – the National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network (RDCRN) in 2003. A uniquely structured collaborative ...
been conducted by the Urea Cycle Disorders Consortium within the Rare Diseases Clinical Research Network (RDCRN) funded by the National Institutes of Health... M Tuchman,B Lee,U Lichter-Konecki,... - 《Molecular Genetics & Metabolism》 被...
lymphangioleiomyomatosis NHLBI National Heart Lung and Blood Institute NIH National Institutes of Health PAP pulmonary alveolar proteinosis PCD primary ciliary dyskinesia PH pulmonary hypertension RDCRN Rare Diseases Clinical Research Network RLDC Rare Lung Diseases Consortium TOPMed Trans-Omics for Precision ...
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