Grace Science has dosed the first patient with GS-100, an AAV9 gene therapy aimed at treating NGLY1 Deficiency, in an open-label Phase I/II/III trial.

The trial's first two parts will focus on dose escalation and assessing GS-100's safety and efficacy.

It will involve a single intracerebroventricular infusion of GS-100 in patients aged two to 18 years old.

In the third section, the trial will measure the co-primary outcomes at 52 weeks, including changes in the NGLY1 Deficiency Primary Disease Activity Biomarker, GlcNAc-Asn (GNA or N-acetylglucosamine), in cerebrospinal fluid.

It will also evaluate the change in the motor subdomain of the Bayley Scales of Infant and Toddler Development, Fourth Edition (BSID-4), from baseline.

Grace Science co-founder Carolyn Bertozzi said: “This study is a true partnership between the scientific community and the NGLY1 patient community.

“The team has worked incredibly hard to reach the goal of treating the first NGLY1 Deficiency patient with this potentially life-changing therapy. We are so thankful to the patients and their families for helping Grace Science turn this treatment into a reality.”

GS-100 is a recombinant AAV9 vector encoding the human NGLY1 gene.

It has received orphan drug designation from the US Food and Drug Administration (FDA) and the European Medicine Agency (EMA).

The therapy also obtained the FDA’s rare paediatric disease designation in 2021 and fast track designation last year.

Grace Science CEO and co-founder Matt Wilsey said: “Treating the first patient is a tremendous milestone for our company and the NGLY1 Deficiency patients we strive to cure.

“We believe this drug will improve the lives of individuals living with this devastating disease. Time is precious as our community has lost 16 individuals since January 2020.”