Investigating Batten disease and its effects
Clinical and Neuropsychological Investigations in Batten Disease
University of Rochester · NCT01873924
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 |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | University of Rochester (other) |
| Locations | 1 site (Rochester, New York) |
| Trial ID | NCT01873924 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include children or adults diagnosed with any form of Batten disease, as well as their parents or legal guardians.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Rochester, New York
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN5, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN7, Neuronal Ceroid Lipofuscinosis CLN8