NEW YORK – Grace Science on Tuesday said it has dosed the first patient in an open-label Phase I/II/III trial of GS-100, the company's experimental gene therapy for NGLY1 deficiency.
The Menlo Park, California-based firm's study comprises a Phase I/II dose-escalation component in which investigators will assess the safety and efficacy of a single infusion of GS-100 in patients ages 2 to 18 years old with NGLY1 deficiency, a rare disease in which patients suffer from neurological symptoms, including global developmental delay and cognitive impairment.
The Phase III part of the trial will assess two co-primary endpoints for patients one year after treatment: change from baseline of the disease activity biomarker N-acetylglucosamine-asparagine (GlcNAc-Asn) in cerebrospinal fluid and change from baseline in the motor subdomain of the fourth edition of the Bayley Scales of Infant and Toddler Development.
GS-100, administered to the patient through an intracerebroventricular infusion, uses an adeno-associated virus serotype 9 vector to deliver a full-length version of the NGLY1 gene.
Grace Science gained permission from the US Food and Drug Administration to begin clinical trials for GS-100 in November, and GS-100 has been granted orphan drug designation from the FDA and the European Medicines Agency, as well as rare pediatric disease and fast-track designations from the FDA.