Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
brief 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.
detailed description
This study is a first in human (FIH) open-label study designed to assess the safety and efficacy of administration of an adeno-associated viral vector serotype 9 (AAV9) carrying the gene encoding N-glycanase 1 (NGLY1) in subjects ages 2-18 years old with NGLY1 Deficiency. The study treatment is delivered via intracerebroventricular (ICV) injection.
Phase 1/2 is the open-label dose finding part of the study designed to evaluate the safety and preliminary efficacy of GS-100 at 4 different dose levels and to select a safe and efficacious dose for the Phase 3 part of the study. Enrollment of 7 participants in the Phase 1/2 part of the study is complete.
Phase 3 is evaluating the efficacy and safety of GS-100 at the Selected Dose determined in the Phase 1/2 part of the study (Mid dose: 1e15 for 6-18-year-olds, 8.7e14 for 2-5-year-olds). Enrollment of 3 participants in the Phase 3 part of the study is complete.
official title
A Phase 1/2/3 Open-label, Single Arm, Dose-finding Study to Investigate Long-term Safety, Tolerability and Efficacy of GS-100, an Adeno-associated Virus Serotype 9 (AAV9) Vector-mediated Gene Transfer of Human NGLY1, in Patients With NGLY1 Deficiency