P024: A pilot phase 2 study to assess the safety and efficacy of sirolimus in pediatric Leigh syndrome patients: Interim analysis

Genetics in Medicine Open 2026 Open access

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Authors: Matthew M. Demczko, Marissa Weis, Sara Nguyen, Laura E. MacMullen, Amy C. Goldstein, Marni J. Falk, Zarazuela Zolkipli‐Cunningham
DOI: 10.1016/j.gimo.2026.103515
Cited by: 0

Abstract

Leigh syndrome (LS) is a progressive neurogenerative disorder resulting from mitochondrial dysfunction that causes severe morbidity and mortality in children and adults without an effective treatment. Sirolimus (rapamycin), a potent inhibitor of the mammalian target of rapamycin (mTOR) pathway, has demonstrated improved mitochondrial functionality and decreased neuroinflammation in pre-clinical studies. Single case reports have documented sirolimus’s potential in vivo efficacy in LS, but objective safety studies have not been carried out to date considering its known immunosuppressive effects and the severe risks of infection in LS patients.

Fields of Study & Subjects

Mitochondrial Function and Pathology Metabolism and Genetic Disorders Autophagy in Disease and Therapy

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103515–103515
Publication date
1 January 2026
Language
EN