Mining the North American Mitochondrial Disease Consortium (NAMDC) Clinical Registry Data to Identify Phenotypes and Outcome Measures for Mitochondrial Diseases

$81,000U54FY2018NSNIH

Columbia University Health Sciences, New York NY

Investigators

Linked publications, trials & patents

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Abstract

Project Summary/Abstract This application seeks funding to support mining of the NAMDC Clinical Registry to: 1) better characterize the phenotypes of several of the more frequent mitochondrial disease syndrome and causative mutations; 2) define potential outcome measures for future natural history and clinical trials; and 3) identify correlations among phenotypic manifestations and phenotypic domains.

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