Clinical Trials Logo
  1. Home
  2. Batten Disease
  3. NCT01873924

Clinical and Neuropsychological Investigations in Batten Disease

Batten Disease Clinical Trial

Official title:
Clinical and Neuropsychological Investigations in Batten Disease

Clinical 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. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.

Clinical Trial 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

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT01873924
Study type Observational [Patient Registry]
Source University of Rochester
Contact Amy Vierhile, RN PNP
Phone (585)275-4762
Email amy_vierhile@urmc.rochester.edu
Status Recruiting
Phase
Start date August 2004
Completion date July 2025
View Details
See also
  Status Clinical Trial Phase
Recruiting NCT02254863 - UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Phase 1
Completed NCT01907087 - A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Phase 1/Phase 2
Recruiting NCT03307304 - Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Active, not recruiting NCT03770572 - Gene Therapy for Children With CLN3 Batten Disease Phase 1/Phase 2
Recruiting NCT06203106 - NYSCF Scientific Discovery Biobank
Completed NCT00151268 - Genotype - Phenotype Correlations of LINCL N/A
Recruiting NCT02435940 - Inherited Retinal Degenerative Disease Registry
Completed NCT01035424 - Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Completed NCT00151216 - Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Phase 1
Active, not recruiting NCT04273243 - Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer
Recruiting NCT03285425 - Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
Completed NCT00176904 - Stem Cell Transplant for Inborn Errors of Metabolism Phase 2/Phase 3
Recruiting NCT03333200 - Longitudinal Study of Neurodegenerative Disorders
Completed NCT02678689 - A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Phase 2
Completed NCT02485899 - An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Phase 1/Phase 2
Active, not recruiting NCT05174039 - An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of CLN3 Disease Phase 1/Phase 2
Terminated NCT01698229 - Collection of Cerebrospinal Fluid in Healthy Children N/A
Enrolling by invitation NCT03862274 - Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
Completed NCT01161576 - Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Phase 1
Recruiting NCT04613089 - Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database