Gene Therapy for NGLY1 Deficiency

The trial explores a new gene therapy called GS-100 (also known as AAV9-NGLY1 gene replacement therapy) for individuals with NGLY1 Deficiency, a rare condition causing developmental delays, movement disorders, and other issues. The researchers aim to determine if a single dose of this therapy, administered directly into the brain, can improve symptoms. Different groups will receive varying doses to identify the most effective amount. Eligible participants have been diagnosed with NGLY1 Deficiency and experience symptoms like developmental delays or movement issues. As a Phase 1/Phase 2 trial, this research focuses on understanding how the treatment works in people and measuring its effectiveness in an initial, smaller group, offering participants a chance to be among the first to potentially benefit from this innovative therapy.

The trial does not specify if you need to stop taking your current medications. However, if you have epilepsy and are on anti-seizure medications, you must be on a stable regimen for at least 28 days before joining the trial.

Research has shown that GS-100, a new gene therapy for NGLY1 Deficiency, underwent animal testing before human trials. These early results suggest that GS-100 could be a promising treatment, with no serious side effects found in these tests.

Unlike the standard of care for NGLY1 deficiency, which primarily involves symptomatic treatments like physical therapy, enzyme replacement, and supportive care, GS-100 offers a new approach by directly addressing the genetic root of the condition. Researchers are excited about GS-100 because it uses gene therapy to potentially correct the underlying genetic defect that causes NGLY1 deficiency. This innovative treatment could revolutionize care by not just managing symptoms but potentially providing a more lasting solution to the disorder.

Research shows that GS-100, a type of gene therapy, could help treat NGLY1 Deficiency. In animal studies, GS-100 improved symptoms when researchers delivered it directly into the brain's fluid spaces. This method uses a virus to replace the faulty gene causing the condition. Early results suggest it might address the root cause of NGLY1 Deficiency by restoring normal gene function. This trial will test different doses of GS-100 in separate cohorts, offering hope for those affected by this rare disorder.¹²³⁴⁶