Batten DiseaseNCT04644549
Natural History Study of Batten Disease
An observational study of Batten Disease and Neuronal Ceroid Lipofuscinosis CLN6, run by Emily de los Reyes at 1 site in United States.
Trial summary
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN3
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Apr 2021to 11 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects diagnosed with CLN3 or CLN6 and their parents/legal guardians are eligible to take part in this study.
Who may be able to join
- Subject has or had a diagnosis of CLN6 or CLN3 Batten disease that has been confirmed by genotyping (documented presence of a variant on both gene alleles). Confirmation of genotyping will be performed prior to enrollment.
- Subject (or legally authorized representative) has provided written informed consent (or assent) and authorization for use and disclosure of personal health information or research related health information
- Subjects may enroll starting from birth
Who cannot join
- Subject has or had experienced another illness that is known to cause cognitive decline (eg, trauma, meningitis, hemorrhage)
- Subject received or receives an investigational gene therapy
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Rochester Medical Center
Rochester, New York, 14642
About this study
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Cohort 1 (n ≈ 75) includes subjects with CLN6 Batten disease. Cohort 2 (n ≈ 120) includes subjects with juvenile CLN3 Batten disease. Additional cohorts for other Batten disease subtypes may be added in the future.
- Keywords
- Neuronal ceroid lipofuscinosis (NCL), CLN6, vLINCL6, CLN6 Batten Disease, Batten Disease, CLN3, CLN3 Batten Disease, variant late infantile
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Subjects with CLN6 Batten disease | Not described | |
| Subjects with juvenile CLN3 Batten disease | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).
The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.
Measured: 10 years
Assess the change over time in rating as determined using the Hamburg Scale.
The Hamburg scale is an established tool to capture the rate of decline or regression.
Measured: 10 years
Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).
Measured: 10 years
Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).
Measured: 10 years
Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).
Measured: 10 years
Characterize the age of onset of disease, including the timing of both the loss of capacities and the emergence of disease-related signs and symptoms
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Nov 2020
- Study start27 Apr 2021
- Primary completion11 Mar 2022
- Study completion11 Mar 2022
Why it stopped: study terminated following strategic portfolio and R\&D alignment
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Batten DiseaseStudies 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
- Cohort
- Time perspective
- Other
- 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
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04644549
- Sponsor's protocol ID
- BAT-001
- Status last verified
- Jul 2025
- First submitted
- 27 Oct 2020
- Last updated
- 30 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Batten Disease
- ClinicalTrials.gov ID
- NCT04644549
- Acronym / sponsor ID
- BAT-001
- Keywords
- Neuronal ceroid lipofuscinosis (NCL), CLN6, vLINCL6, CLN6 Batten Disease, Batten Disease, CLN3, CLN3 Batten Disease, variant late infantile
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: study terminated following strategic portfolio and R\&D alignment
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Emily de los ReyesUniversity, hospital or other
- Study start
- 27 Apr 2021 (actual)
- Primary completion
- 11 Mar 2022 (actual)
- Study completion
- 11 Mar 2022 (actual)
- First posted
- 25 Nov 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 multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Cohort 1 (n ≈ 75) includes subjects with CLN6 Batten disease. Cohort 2 (n ≈ 120) includes subjects with juvenile CLN3 Batten disease. Additional cohorts for other Batten disease subtypes may be added in the future.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Subjects with CLN6 Batten disease | – | – |
| Subjects with juvenile CLN3 Batten disease | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects diagnosed with CLN3 or CLN6 and their parents/legal guardians are eligible to take part in this study.
Key inclusion criteria (3 listed)
- Subject has or had a diagnosis of CLN6 or CLN3 Batten disease that has been confirmed by genotyping (documented presence of a variant on both gene alleles). Confirmation of genotyping will be performed prior to enrollment.
- Subject (or legally authorized representative) has provided written informed consent (or assent) and authorization for use and disclosure of personal health information or research related health information
- Subjects may enroll starting from birth
Key exclusion criteria (2 listed)
- Subject has or had experienced another illness that is known to cause cognitive decline (eg, trauma, meningitis, hemorrhage)
- Subject received or receives an investigational gene therapy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).
Time frame: 10 years
The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.
Assess the change over time in rating as determined using the Hamburg Scale.
Time frame: 10 years
The Hamburg scale is an established tool to capture the rate of decline or regression.
Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).
Time frame: 10 years
Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).
Time frame: 10 years
Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).
Time frame: 10 years
Characterize the age of onset of disease, including the timing of both the loss of capacities and the emergence of disease-related signs and symptoms
Time frame: 10 years
Results and safety
The study was stopped early (reason given: study terminated following strategic portfolio and R\&D alignment). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jul 2025.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Batten Disease and Neuronal Ceroid Lipofuscinosis CLN6, 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 2 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: stopped early, as of the sponsor's last update on 30 Jul 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?
The study was stopped early (reason given: study terminated following strategic portfolio and R\&D alignment). Results are not available in the source record.
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?
Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS). (time frame: 10 years). The study lists 6 primary outcomes in all. 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 30 Jul 2025.