CLN6NCT04273243
Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer
An observational study of CLN6 and Batten Disease, run by Emily de los Reyes at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 months and older
- Conditions the study is for
- CLN6, Batten Disease
- What is being tested?
- AT-GTX-501
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Jan 2020to Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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).
Who may be able to join
- 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.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hosptial
Columbus, Ohio, 43205
About this study
Official title: Long-Term Follow-Up of AT-GTX-501 scAAV9 Gene Transfer in Subjects With CLN6 Batten Disease
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.
Read the 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.
- Conditions
- CLN6, Batten Disease
- Being tested
- AT-GTX-501
- Keywords
- Neuronal ceroid lipofuscinosis, NCL, Gene Transfer, vLINCL6
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AT-GTX-501Genetic
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.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Genetic: AT-GTX-501 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: up to 3 years
Secondary outcomes (1)
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.
Measured: up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Feb 2020
- Study start24 Jan 2020
- Primary completionDec 2026 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CLN6Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Emily de los Reyes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Emily de los Reyes, Nationwide Children's Hospital
- Investigators
- Emily de los Reyes, MD, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04273243
- Sponsor's protocol ID
- AT-GTX-501-02
- Status last verified
- Sep 2025
- First submitted
- 14 Feb 2020
- Last updated
- 2 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-Term Follow-Up of AT-GTX-501 scAAV9 Gene Transfer in Subjects With CLN6 Batten Disease
- ClinicalTrials.gov ID
- NCT04273243
- Acronym / sponsor ID
- AT-GTX-501-02
- Conditions
- CLN6, Batten Disease
- Keywords
- Neuronal ceroid lipofuscinosis, NCL, Gene Transfer, vLINCL6
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Emily de los ReyesUniversity, hospital or other
- Study start
- 24 Jan 2020 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 18 Feb 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects who received AT-GTX-501 gene transfer | – | Genetic: AT-GTX-501Subjects with CLN6 Batten disease who previously received AT-GTX-501 in the preceding study (Study AT-GTX-501-01). |
Who may qualify
- Ages
- 12 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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).
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AT-GTX-501No 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. | Genetic | Subjects who received AT-GTX-501 gene transfer |
Primary outcome
Long-term safety assessment based on Adverse Events (AEs)
Time frame: 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.
1 secondary outcome
Hamburg Scale
Time frame: up to 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2025.
- Individual participant dataSharing planned: No
Related trials for CLN6
RecruitingObservational study
Clinical and Neuropsychological Investigations in Batten Disease
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1
Not yet recruitingPhase 1/2
Gene Therapy Trial for CLN6 Batten Disease
CLN6, Batten Disease
Active, not recruitingObservational study
Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
Batten Disease, CLN6
RecruitingObservational study
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
Neuronal Ceroid Lipofuscinosis, Batten Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Emily de los Reyes, MD principal investigator
Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CLN6 and Batten Disease, run by Emily de los Reyes at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 2 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Long-term safety assessment based on Adverse Events (AEs) (time frame: up to 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2025.