Investigating Batten disease and its effects
Official title: Clinical and Neuropsychological Investigations in Batten Disease
Run by University of Rochester · NCT01873924 · Data updated 2026-11-12
This study is trying to understand how Batten disease affects movement, behavior, and daily life by collecting information from people with the condition over time.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | University of Rochester Academic / other |
| Locations | 1 site (Rochester, New York) |
| Status | Recruiting |
| Started | August 2004 |
| Main results expected | August 2035 |
| Study ends | August 2035 |
| Registry record updated | November 4, 2026 |
| Trial ID | NCT01873924 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include children or adults diagnosed with any form of Batten disease, as well as their parents or legal guardians.
✕Probably not a fit
Patients who do not have Batten disease or whose guardians are unable or unwilling to provide consent may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to assess the natural history of Batten disease, also known as Neuronal Ceroid Lipofuscinosis, by collecting data on the motor, behavioral, and functional capabilities of affected individuals. The study will utilize the Unified Batten Disease Rating Scale (UBDRS) to evaluate participants annually and track disease progression. Additionally, neuropsychological assessments, quality of life measures, and other relevant data will be gathered to understand the impact of the disease. Participants can be examined at the University of Rochester Batten Center, during annual meetings, or remotely via televideo.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Batten disease and improve clinical assessment tools for better patient management.
How similar studies have gone: While there have been limited systematic studies on Batten disease, the use of standardized rating instruments like the UBDRS represents a novel approach in this field.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * child or adult with any form of Batten disease * parent or legal guardian of a child or adult with any form of Batten disease Exclusion Criteria: \- parent or guardian unable or unwilling to provide permission for the affected individual
Where it's running
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University of Rochester
Rochester, New York, United States Recruiting
Study contacts
- Principal investigator: Jonathan W Mink, MD PhD — University of Rochester
- Study coordinator: Amy Vierhile, RN PNP
- Email: amy_vierhile@urmc.rochester.edu
- Phone: (585)275-4762
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Observational study on the natural history of Batten disease
This study looks at how Batten disease affects patients over time by collecting information about their symptoms and health to help understand the disease better and support future treatments.
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Registry for patients with neuronal ceroid lipofuscinosis
This study is creating a registry to collect and track information from people with neuronal ceroid lipofuscinosis to help improve future treatments and understand the condition better.
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Biobank for studying ALS and Alzheimer's diseases
This study is collecting blood, skin samples, and health information from people to see how genetics might help us understand and find treatments for ALS and Alzheimer's disease.
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Long-term observation of rare genetic brain disorders
This study is tracking how rare genetic brain disorders progress over time to better understand their effects on patients.
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Investigating biomarkers for Juvenile Neuronal Ceroid Lipofuscinosis
This study is trying to find specific markers in blood and other samples from people with Batten disease to help track the disease's progress and support future treatments.
-
Registry for inherited retinal degenerative diseases
This study is creating a registry for people with rare inherited eye diseases to help track their health and experiences over time, making it easier to understand these conditions and support research.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.