Clinical and Neuropsychological Investigations in Batten Disease

Description

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.

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, Neuronal Ceroid Lipofuscinosis CLN10, Batten Disease

Study Overview

Study Details

Study overview

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.

Clinical and Neuropsychological Investigations in Batten Disease

Clinical and Neuropsychological Investigations in Batten Disease

Condition
Neuronal Ceroid Lipofuscinosis
Intervention / Treatment

-

Contacts and Locations

Rochester

University of Rochester, Rochester, New York, United States, 14642

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Rochester,

Jonathan W Mink, MD PhD, PRINCIPAL_INVESTIGATOR, University of Rochester

Study Record Dates

2025-07