Pharma Focus Europe

Grace Science, LLC Starts Clinical Trial for GS-100, an AAV9 Gene Therapy Targeting NGLY1 Deficiency, Treating First Patient

Wednesday, March 06, 2024

Grace Science, LLC announced today that they have initiated an open-label Phase 1/2/3 clinical trial for GS-100, an AAV9 gene replacement therapy aimed at treating NGLY1 Deficiency.

The first part of the study will involve dose-escalation, safety, and efficacy assessments through a single intracerebroventricular (ICV) infusion of GS-100 in NGLY1 Deficiency patients aged 2-18 years.

The subsequent phase will evaluate co-primary outcomes 52 weeks post-treatment at the chosen dose. These outcomes include changes from baseline in the NGLY1 Deficiency Primary Disease Activity Biomarker, GlcNAc-Asn (GNA), in cerebrospinal fluid, and in the motor subdomain of the Bayley Scales of Infant and Toddler Development, Fourth Edition (BSID-4).

For more information on the Phase 1/2/3 study, visit

Matt Wilsey, CEO & Co-Founder of Grace Science, LLC, expressed the significance of dosing the first patient, highlighting its importance for both the company and the NGLY1 Deficiency patient community. He emphasized the potential of the drug to enhance the lives of those affected by this disease, acknowledging the urgency due to recent losses within the community.

Carolyn Bertozzi, Co-Founder of Grace Science, LLC, emphasized the collaborative effort between the scientific and patient communities. She praised the dedication of the team in achieving the milestone of treating the first NGLY1 Deficiency patient with this potentially transformative therapy, expressing gratitude towards patients and their families for their contribution.

GS-100 is a recombinant, single-stranded AAV9 vector encoding the full-length human NGLY1 gene. It has received Orphan Drug Designation (ODD) from both the FDA and the European Medicine Agency (EMA) in 2021, Rare Pediatric Disease Designation from the FDA in 2021, and Fast Track Designation from the FDA in 2023.

NGLY1 Deficiency is a severe, life-threatening condition lacking approved therapies. Patients endure early-onset debilitating symptoms, including global developmental delay, cognitive impairment, (hypo)alacrima, movement disorders, and other neurological manifestations.



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