Neuronal Ceroid LipofuscinosisNCT01873924
Clinical and Neuropsychological Investigations in Batten Disease
An observational study of Neuronal Ceroid Lipofuscinosis and Neuronal Ceroid Lipofuscinosis CLN1, run by University of Rochester at 1 site in United States.
Trial summary
This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2004to Aug 2035
- How long will I take part?
- 10 Years
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
Who may be able to join
- child or adult with any form of Batten disease
- parent or legal guardian of a child or adult with any form of Batten disease
Who cannot join
- parent or guardian unable or unwilling to provide permission for the affected individual
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Rochester
Rochester, New York, 14642
Amy Vierhile, RN PNP, (585) 275-4762, amy_vierhile@urmc.rochester.edu
About this study
This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.
Read the detailed description
Batten Disease is an inherited disorder that causes progressive cognitive and behavioral decline in children. There have been no systematic clinical studies of Batten Disease using standardized rating instruments with known inter-rater reliability and validity.
The Batten Study Group developed the Unified Batten Disease Rating Scale (UBDRS), a clinical rating instrument used to assess the motor, behavioral, and functional capabilities of individuals with Batten disease. Using the UBDRS, study investigators will evaluate participants approximately every year to track disease progression. The UBDRS is the primary natural history tool, but the study also includes neuropsychological assessment, adaptive function, quality of life measures, and other measures to assess the impact of Batten Disease. Participants will be examined at the University of Rochester Batten Center, Batten Disease Support and Research Association annual meeting, or remotely via televideo. Information related to racial and ethnic background, medical history, symptoms, medications, and diagnostic testing will be collected.
- Conditions
- Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN5, Neuronal Ceroid Lipofuscinosis CLN6
- Keywords
- Batten disease, NCL, Neuronal Ceroid Lipofuscinosis
- 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 |
|---|---|---|
| Batten disease | Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease.
A quantitative measure of natural history
Measured: Annual Assessments for up to 20 years
Secondary outcomes (2)
Cognitive and neurobehavioral functioning of individuals with Batten disease
A standardized battery of neuropsychological tests and neurobehavioral assessments will be used to measure cognitive skills (e.g., verbal reasoning, attention, memory, language), mood, behavior, adaptive function, and quality of life.
Measured: Annual Assessments for up to 10 years
Quantitative assessment of vision and retinal thickness
Vision and retinal thickness assessments include visual acuity, visual fields, fundus photography to document anatomic extent of disease, fundus autofluorescence to measure lipofuscin accumulation, and optical coherence tomography (OCT) to provide detailed images of retinal structure, measure retinal layers, and measure central macular thickness.
Measured: Annual Assessments for up to 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2013 (estimated)
- Study startAug 2004
- Primary completionAug 2035 (estimated)
- Study completionAug 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuronal Ceroid LipofuscinosisStudies of the same condition, open and under way.
- More trials run by University of RochesterThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 500 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- University of Rochester
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jennifer Vermilion, University of Rochester
- Investigators
- Jonathan W Mink, MD PhD, Principal investigator, University of Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01873924
- Sponsor's protocol ID
- Batten Study
- Status last verified
- Oct 2026
- First submitted
- 17 May 2013
- Last updated
- 4 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Neuropsychological Investigations in Batten Disease
- ClinicalTrials.gov ID
- NCT01873924
- Acronym / sponsor ID
- Batten Study
- Conditions
- Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN5, Neuronal Ceroid Lipofuscinosis CLN6
- Keywords
- Batten disease, NCL, Neuronal Ceroid Lipofuscinosis
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University of RochesterUniversity, hospital or other
- Study start
- Aug 2004
- Primary completion
- Aug 2035 (estimated)
- Study completion
- Aug 2035 (estimated)
- First posted
- 10 Jun 2013 (estimated)
- 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 study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.
Detailed description
Batten Disease is an inherited disorder that causes progressive cognitive and behavioral decline in children. There have been no systematic clinical studies of Batten Disease using standardized rating instruments with known inter-rater reliability and validity.
The Batten Study Group developed the Unified Batten Disease Rating Scale (UBDRS), a clinical rating instrument used to assess the motor, behavioral, and functional capabilities of individuals with Batten disease. Using the UBDRS, study investigators will evaluate participants approximately every year to track disease progression. The UBDRS is the primary natural history tool, but the study also includes neuropsychological assessment, adaptive function, quality of life measures, and other measures to assess the impact of Batten Disease. Participants will be examined at the University of Rochester Batten Center, Batten Disease Support and Research Association annual meeting, or remotely via televideo. Information related to racial and ethnic background, medical history, symptoms, medications, and diagnostic testing will be collected.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Batten disease | – | –Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
Key inclusion criteria (2 listed)
- child or adult with any form of Batten disease
- parent or legal guardian of a child or adult with any form of Batten disease
Key exclusion criteria (1 listed)
- parent or guardian unable or unwilling to provide permission for the affected individual
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
Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease.
Time frame: Annual Assessments for up to 20 years
A quantitative measure of natural history
2 secondary outcomes
Cognitive and neurobehavioral functioning of individuals with Batten disease
Time frame: Annual Assessments for up to 10 years
Quantitative assessment of vision and retinal thickness
Time frame: Annual Assessments for up to 20 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 4 Nov 2026.
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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.
Jonathan W Mink, MD PhD principal investigator
University of Rochester
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 Neuronal Ceroid Lipofuscinosis and Neuronal Ceroid Lipofuscinosis CLN1, run by University of Rochester 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 2 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: looking for participants now, as of the sponsor's last update on 4 Nov 2026. 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?
Contact Amy Vierhile, RN PNP ((585)275-4762, amy_vierhile@urmc.rochester.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease. (time frame: Annual Assessments for up to 20 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 4 Nov 2026.