Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
Trial Parameters
Brief Summary
A non-randomized, open-label, dose escalation study of a single intracerebroventricular (ICV) administration of a gene replacement therapy in subjects who are 2 to 18 years old with NGLY1 Deficiency.
Eligibility Criteria
Inclusion Criteria: * Patients must be 2 to 18 years of age, inclusive, at the time of signing the informed consent form (ICF) * Patients with a documented diagnosis of NGLY1 Deficiency based on detection of biallelic variants in the NGLY1 gene via molecular genetic sequencing * Elevated GNA levels may be considered alongside genetic sequencing data and other clinical data to assist with diagnosis confirmation * Patients with two or more of the following clinical features typical of NGLY1 Deficiency: 1. Global developmental delay and/or intellectual disability 2. Hyperkinetic movement disorder 3. Transient elevation of transaminases 4. (Hypo)alacrima 5. Peripheral neuropathy * For patients with epilepsy who require anti-seizure medications for seizure control: must be on a stable regimen for 28 days prior to enrollment * Patients willing and capable per investigator opinion to comply with study procedures and requirements * Females of childbearing potential must have a negative serum p