Exploring the Safety and Tolerability of VGN-R08b Gene Therapy Given by Brain Injection in Infants With Type II Gaucher Disease

What this Trial Is About

Type II Gaucher disease is a rare genetic disorder that affects infants, causing severe neurological and visceral problems often leading to death before age two. This trial aims to explore the safety and tolerability of a gene therapy called VGN-R08b, which is designed to address the underlying enzyme deficiency in affected patients. The study is an early-phase, open-label trial conducted at a single center, focusing on infants diagnosed with this condition. VGN-R08b is a gene therapy using an adeno-associated virus AAV9 to deliver a functional copy of the GBA1 gene directly into the brain via intracerebroventricular injection. The study has two parts a dose-escalation phase testing two dose levels with one patient each, followed by a dose-expansion phase including 2 to 4 additional patients. Treatment is given once, and the trial will investigate how well patients tolerate the gene therapy and monitor for side effects. Participants undergo regular assessments including monitoring for adverse events, survival rates up to 24 months of age, and changes in relevant enzyme activity and biomarkers in blood and cerebrospinal fluid over up to five years. The study includes immunogenicity testing and tracking of the gene therapy vector in the blood. Safety follow-up continues long term to assess lasting effects. Parents or guardians provide consent and help with study assessments throughout the participation period.

An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease