Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1.

Feldman, Amy G; Parsons, Julie A; Dutmer, Cullen M; Veerapandiyan, Aravindhan; Hafberg, Einar; Maloney, Nolan; Mack, Cara L · J Pediatr · 2020

case_report · Level V

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Abstract

Spinal muscular atrophy is a neurodegenerative disease resulting from irreversible loss of anterior horn cells owing to biallelic deletions/mutations in the survival motor neuron (SMN) 1 gene. Gene replacement therapy using an adeno-associated virus vector containing the SMN gene was approved by the US Food and Drug Administration in May 2019. We report 2 cases of transient, drug-induced liver failure after this therapy.

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