Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency

Summary

A non-randomized, open-label, Phase 1/2/3 study of a single intracerebroventricular (ICV) administration of a gene replacement therapy (GS-100) in participants who are 2 to 18 years old with NGLY1 Deficiency.

Timeline

Start

2024-02-13

Primary completion

2027-03

Completion

2031-03

Publications

• Background Zhu L, Cook JW, Newton A, Dwight SS, Beahm B, Wilsey M, Mueller WF, Schweighardt B. Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency. Mol Ther Methods Clin Dev. 2025 Jun 25;33(3):101524. doi: 10.1016/j.omtm.2025.101524. eCollection 2025 Sep 11.
• Background Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ. NGLY1 deficiency: a prospective natural history study. Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106.
• Background Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN. NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry. Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3.
• Background Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. Delineating the epilepsy phenotype of NGLY1 deficiency. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11.

Drugs

Indications