MLD

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Trials to join now! 2 Completed 1

Gene test cuts diagnosis time for devastating childhood brain diseases from years to months

Diagnosis Completed

This study tested whether using whole genome sequencing (a complete genetic map) as a first test could diagnose children with rare, inherited brain disorders called leukodystrophies faster and more accurately than the standard step-by-step approach. Researchers enrolled 236 child…

Matched conditions: MLD

Sponsor: Children's Hospital of Philadelphia • Aim: Diagnosis

Last updated Mar 25, 2026 14:07 UTC

MLD

Get alerted when new MLD trials appear

Gene test cuts diagnosis time for devastating childhood brain diseases from years to months