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

NCT04273243 | Active Not Recruiting FDA Drug

• 1 other identifier: AT-GTX-501-02
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

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.

Conditions

CLN6; Batten Disease

Keywords

Neuronal ceroid lipofuscinosis; NCL; Gene Transfer; vLINCL6

Outcome Measures

Primary Outcomes (1)

• Long-term safety assessment based on Adverse Events (AEs)

  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.

  up to 3 years

Secondary Outcomes (1)

• Hamburg Scale

  up to 3 years

Study Arms (1)

Subjects who received AT-GTX-501 gene transfer

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

Genetic: AT-GTX-501

Interventions

AT-GTX-501 GENETIC

No study drug is administered in this study. Subjects who received AT-GTX-501 in a previous trial will be evaluated in this trial for long-term safety and efficacy.

Subjects who received AT-GTX-501 gene transfer

Eligibility Criteria

• Age: 12 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The subject population in this Long-Term Follow Up study consists of subjects with CLN6 Batten disease who previously received AT-GTX-501 in the preceding study (AT-GTX-501-01).

You may qualify if:

• 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.

You may not qualify if:

• None

Sponsors & Collaborators

• Emily de los Reyes: lead

Study Sites (1)

Nationwide Children's Hosptial

Columbus, Ohio, 43205, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

During the study, blood samples will be taken for routine lab tests and future tests for safety, effectiveness, or other research assessments.

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Emily de los Reyes, MD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Dr. Emily De Los Reyes

Study Record Dates

• First Submitted: February 14, 2020
• First Posted: February 18, 2020
• Study Start: January 24, 2020
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2027
• Last Updated: October 2, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)