Charlie Gard (August 4, 2016, to July 28, 2017) was an infant in the United Kingdom who was diagnosed with an encephalopathic form of mitochondrial DNA depletion syndrome caused by a mutation in the RRM2B gene. Charlie's parents raised 1.3 million…
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Symptoms include motor decline, developmental regression, decreased intellectual capabilities, and…
OBJECTIVE: To determine the impact of an innovative professional educational approach on clinicians' confidence and ability to make institutional improvements in pediatric palliative care. DESIGN: Evaluation to assess impact of educational…
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…
PURPOSE: To compare IRB processes in 68 U.S. hospitals for the same multicenter study. DESIGN: Survey of IRB processes in 68 U.S. hospitals during 2001-2002. METHODS: Requirements of IRB submission including type and duration of review and…
Palliative care research is fraught with many difficulties. There are challenges associated with conducting research with vulnerable patients and families, difficulties with obtaining informed consent, and methodological complexities. Thoughtful…