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
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Among 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States — 10 open to participants now, 18 under way, none of them phase 3. Neuronal Ceroid-Lipofuscinoses · United States.
Among the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States, this one is the 16th largest by enrollment of the 18 observational ones that give a count, is one of 2 that started in 2020, is one of 18 observational ones, reaches primary completion later than 2 of the 17 other live ones, and was the 28th registered.
49 studies on the registry are indexed under Neuronal Ceroid-Lipofuscinoses; 13 are open to participants now.
Browse Neuronal Ceroid-Lipofuscinoses studies →10 of the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States are open now. Recruiting first, the newest first:
New York Stem Cell Foundation Research Institute · Sites in United States
Ages 30 days+
National Human Genome Research Institute (NHGRI) · Sites in United States
Ages 18–100 · Healthy volunteers
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Sites in United States
Ages 1 wk–100 yrs
Joanne Kurtzberg, MD · Sites in United States
Ages 1 wk–22 yrs
Foundation Fighting Blindness · Sites in United States
Healthy volunteers
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 11 Neuronal Ceroid-Lipofuscinoses studies recruiting now, 7 (64%) set no upper age limit and 2 (18%) stop at 75 or younger; 10 take children under 18; 2 take healthy volunteers.
This study: 12 Months and older · all sexes · no healthy volunteers.
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38 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 16 · Phase 2 12 · Phase 3 1 · Phase 4 1
First in 1995; this study’s year is marked. 2 started in 2020.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 10 is below the median of 57 across 23 observational studies indexed under Neuronal Ceroid-Lipofuscinoses.
Median enrollment 11 across the 20 interventional studies, 65 across the 18 observational. Of the 19 that completed or were terminated, 8 (42%) have results posted.
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9 of 38 have an industry lead sponsor. The 10 most frequent:
Emily de los Reyes is the lead sponsor of 5 studies on the registry; 1 is open to participants now.
Emily de los Reyes has 4 studies filed under Neuronal Ceroid-Lipofuscinoses — fewer than ten, so there is no comparison to draw.
5 of the studies in Neuronal Ceroid-Lipofuscinoses with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT04098211Children's Hospital of Orange CountyLongitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients | 2026-12 |
| NCT04273243Emily de los ReyesLong-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer | 2026-12 |
| NCT03285425Emily de los ReyesNatural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae | 2026-12 |
| NCT07582484The Charlotte and Gwenyth Gray FoundationGene Therapy Trial for CLN6 Batten Disease | 2027-08 |
| NCT02254863Joanne Kurtzberg, MDUCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | 2027-10 |
Add all 5 to your calendar (.ics) → With an account.
Among the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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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).
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Started Jan 2020 (actual). Primary completion is estimated for Dec 2026, 83 months after the start.
How these figures are worked out, and which studies are left out of them.
This study is active, not recruiting, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
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Neuronal Ceroid-Lipofuscinoses →
Emily de los Reyes