Natural History Study of Batten Disease

NCT04644549 | Terminated

• 1 other identifier: BAT-001
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Cohort 1 (n ≈ 75) includes subjects with CLN6 Batten disease. Cohort 2 (n ≈ 120) includes subjects with juvenile CLN3 Batten disease. Additional cohorts for other Batten disease subtypes may be added in the future.

Conditions

Batten Disease; Neuronal Ceroid Lipofuscinosis CLN6; Neuronal Ceroid Lipofuscinosis CLN3

Keywords

Neuronal ceroid lipofuscinosis (NCL); CLN6; vLINCL6; CLN6 Batten Disease; Batten Disease; CLN3; CLN3 Batten Disease; variant late infantile

Outcome Measures

Primary Outcomes (6)

• Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).

  The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.

  10 years

• Assess the change over time in rating as determined using the Hamburg Scale.

  The Hamburg scale is an established tool to capture the rate of decline or regression.

  10 years

• Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).

  10 years

• Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).

  10 years

• Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).

  10 years

• Characterize the age of onset of disease, including the timing of both the loss of capacities and the emergence of disease-related signs and symptoms

  10 years

Study Arms (2)

Subjects with CLN6 Batten disease

Subjects with juvenile CLN3 Batten disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects diagnosed with CLN3 or CLN6 and their parents/legal guardians are eligible to take part in this study.

You may qualify if:

• Subject has or had a diagnosis of CLN6 or CLN3 Batten disease that has been confirmed by genotyping (documented presence of a variant on both gene alleles). Confirmation of genotyping will be performed prior to enrollment.
• Subject (or legally authorized representative) has provided written informed consent (or assent) and authorization for use and disclosure of personal health information or research related health information
• Subjects may enroll starting from birth

You may not qualify if:

• Subject has or had experienced another illness that is known to cause cognitive decline (eg, trauma, meningitis, hemorrhage)
• Subject received or receives an investigational gene therapy

Sponsors & Collaborators

• Emily de los Reyes: lead

Study Sites (1)

University of Rochester Medical Center

Rochester, New York, 14642, United States

Location

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Sponsor-Investigator

Study Record Dates

• First Submitted: October 27, 2020
• First Posted: November 25, 2020
• Study Start: April 27, 2021
• Primary Completion: March 11, 2022
• Study Completion: March 11, 2022
• Last Updated: July 30, 2025

Record last verified: 2025-07

Locations

US (1)