RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone.

ABSTRACT: A male patient diagnosed with Leigh Syndrome due to a compound heterizygous mutation in SURF1 (SURF1 c.312_321del10insAT (p.Leu105*); SURF1 c.574C>T (p.Arg192Trp)) was prescribed Omaveloxolone under physican supervision. Pre-treatment patient blood showed deficiency in pathways associated with oxidative phosphorylion and cellular energetics. Omaveloxolone normalized this phenotype via enrichment of these pathways.

ORGANISM(S): Homo sapiens

PROVIDER: GSE318208 | GEO | 2026/08/01

REPOSITORIES: GEO