First Patient Dosed in NGLY1 Deficiency Gene Therapy Trial

Grace Science, LLC has initiated a clinical trial for GS-100, a gene therapy designed to treat NGLY1 Deficiency, a rare and severe genetic disorder. The first participant has received the treatment in an open-label, multi-phase study which includes phases 1, 2, and 3. This marks a significant advancement in the quest to find a cure for this life-threatening condition.

The initial phases of the study are focused on determining the optimal dosage and evaluating the safety and effectiveness of a single intracerebroventricular administration of GS-100 for patients between the ages of 2 and 18. The treatment involves the use of an adeno-associated virus serotype 9 (AAV9) vector to deliver a functional copy of the NGLY1 gene to the patient's cells.

In the third phase, the study will measure the primary outcomes after 52 weeks at the determined dosage. The primary outcomes include the change in the NGLY1 Deficiency Primary Disease Activity Biomarker, GlcNAc-Asn (GNA), in the cerebrospinal fluid and the improvement in motor function as assessed by the Bayley Scales of Infant and Toddler Development, Fourth Edition (BSID-4).

GS-100 has been recognized for its potential with several designations, including Orphan Drug Designation from both the FDA and the European Medicine Agency, Rare Pediatric Disease Designation, and Fast Track Designation by the FDA.

NGLY1 Deficiency is characterized by severe developmental delays and cognitive impairments, with symptoms manifesting early in life. There is currently no approved treatment for this condition, making the development of GS-100 a critical step forward.

Grace Science, founded in 2017 by Matt Wilsey and Dr. Carolyn Bertozzi, is dedicated to developing novel therapies based on the NGLY1 enzyme's role in proteostasis. The company's deep understanding of the NGLY1 pathway is instrumental in identifying innovative treatment approaches for NGLY1 Deficiency and other diseases.

The clinical trial represents a collaborative effort between the scientific community and the NGLY1 patient community. The company is grateful to the participants and their families for their contribution to the advancement of this potentially transformative therapy. The urgency of this research is underscored by the loss of sixteen individuals from the NGLY1 community since January 2020.