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Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders

28 Apr 2020

Abstract excerpt

OBJECTIVE: Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. METHODS: A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnostic tool for genetic white matter disorders took place between December 1, 2015 and September 27, 2017. Patients were randomized to receive GS immediately with...

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PMID: 32342562
DOI: 10.1002/ana.25757

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