NCT02725580

Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease

Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 13 (actual)
• Sponsor: Emily de los Reyes · Academic / Other
• Sex: All
• Age: 1 Year
• Healthy volunteers: Not accepted

Summary

This is a phase 1/2, open-label, single dose study to evaluate the safety and efficacy of AT-GTX-501 delivered intrathecally into the lumbar spinal cord region of participants with mild to moderate variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease).

Detailed description

This is an open-label, single-dose study of AT-GTX-501 administered by a single intrathecal injection. Safety and efficacy are evaluated over a 2 year period. The efficacy assessments in this study are to evaluate motor, language, visual, and cognitive function, as well as survival and other outcome measures. Participants are tested at baseline, receive AT-GTX-501 on Day 0, and return for visits on Days 7, 14, 21, and 30, and then every 3 months until Month 24. Following completion of this study, there is a long-term follow up study in which data will continue to be collected (Study AT-GTX-501-02 / NCT04273243). For more information about this study, please contact Amicus Therapeutics Patient Advocacy at [e-mail] or [phone].

Conditions

• Variant Late-Infantile Neuronal Ceroid Lipofuscinosis

Interventions

Type	Name	Description
GENETIC	AT-GTX-501	CLN6 Gene delivered by Self-Complementary AAV9

Timeline

• Start date: 2016-05-01
• Primary completion: 2022-10-01
• Completion: 2024-10-01
• First posted: 2016-04-01
• Last updated: 2025-10-24
• Results posted: 2023-03-08

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study