Project Grant R03HD116194

Award Date 9/1/24
Completion Date 8/31/26
Dollars Obligated $178K
Federal Grant Program
93.865
Assistance Type
Project Grant
Place of Performance
Philadelphia, PA 19104, USA
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The project aims to develop and validate a clinician-reported outcome measure, in the form of a Pelizaeus-Merzbacher Disease (PMD) severity scale. PMD is a rare genetic leukodystrophy, and this tool will enable early disease subtype determination and facilitate cohort stratification for future clinical trials. The research leverages CHOP's existing natural history data on over 60 PMD patients to establish the scale's face and construct validity (Aim 1). The team will then prospectively validate the scale's feasibility, reliability, and criterion validity in a cohort of 30 PMD patients (Aim 2). This validated PMD severity scale can serve as a critical clinical endpoint in upcoming trials for this rare disorder.

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