Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer

Active, not recruiting

• Conditions: CLN6; Batten Disease
• Interventions: Genetic: AT-GTX-501

• Registration Number: NCT04273243
• Lead Sponsor: Amicus Therapeutics

Brief Summary

This is a long-term safety and efficacy study in subjects with CLN6 Batten disease who previously received a single intrathecal administration of AT-GTX-501.

Detailed Description

This is a long-term safety and efficacy study in subjects with CLN6 Batten disease (also know as variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene \[vLINCL6\] disease),who previously received a single intrathecal administration of AT-GTX-501. The assessments described in this long-term follow-up (LTFU) study (AT-GTX-501-02) are performed following and in addition to the initial 2 years of post-treatment assessments in the treatment study (AT-GTX-501-01). In this LTFU study, subjects complete safety and efficacy assessments throughout the study's 3-year duration. Combining the duration of the initial treatment study and this LTFU study, the overall duration reflects a follow-up period up-to 5 years since gene transfer via AT-GTX-501.

The primary outcome for this study is to assess the long-term safety of AT-GTX-501 in subjects with CLN6 Batten disease.

The secondary outcome measure of this study is to assess the long-term efficacy of AT-GTX-501 in subjects with CLN6 Batten disease.

Study Timeline

• Study Start: 2020-01-24
• Study First Submitted: 2020-02-14
• Study First Submitted QC: 2020-02-14
• Study First Posted: 2020-02-18
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-02
• Last Update Posted: 2023-02-06
• Primary Completion: 2024-10
• Study Completion: 2024-10

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

• Subject received AT-GTX-501 (scAAV9.CB.CLN6) in the study "Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9."
• Subject completed or prematurely discontinued from the study "Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9."
• Subject has a legally authorized representative who has provided written informed consent and authorization for use and disclosure of personal health information or research-related health information.

Exclusion Criteria

• None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Subjects who received AT-GTX-501 gene transfer	AT-GTX-501	Subjects with CLN6 Batten disease who previously received AT-GTX-501 in the preceding study (Study AT-GTX-501-01).

Primary Outcome Measures

Name	Time	Method
Long-term safety assessment based on Adverse Events (AEs)	up to 3 years	All AEs that occur during this study will be classified as treatment-emergent adverse events (TEAEs), as AT-GTX-501 was previously received by all subjects in this study.

Secondary Outcome Measures

Name	Time	Method
Hamburg Scale	up to 3 years	The Hamburg scale is an established tool to capture the rate of decline or regression. From the Hamburg Scale, the individual motor and language scores and the motor plus language aggregated score will be summarized.

Trial Locations

Locations (1)

Nationwide Children's Hosptial; 🇺🇸 Columbus, Ohio, United States