An observational study in CLN6 and Batten Disease, sponsored by Emily de los Reyes. Active, not recruiting at 1 site in United States. Open to participants aged 12 Months and older. Per ClinicalTrials.gov, last updated 2025-10-02.
Sponsored by Emily de los Reyes · Observational
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.
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.
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).
Exclusion Criteria:
Subjects with CLN6 Batten disease who previously received AT-GTX-501 in the preceding study (Study AT-GTX-501-01).
Genetic: AT-GTX-501
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.
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.
Time frame: up to 3 years
Hamburg Scale
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.
Time frame: up to 3 years
Plan to share: No
No publications or documents are linked to this record.
This study is active, not recruiting, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Neuronal Ceroid-Lipofuscinoses→
Emily de los Reyes