Natural History Study of Batten Disease

Batten Disease Clinical Trial

Official title:

Natural History Study of Batten Disease

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT04644549
• Other study ID #: BAT-001
• Status: Terminated
• Start date: April 27, 2021
• Est. completion date: March 11, 2022

Study information

• Verified date: April 2022
• Source: Amicus Therapeutics
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 10
• Est. completion date: March 11, 2022
• Est. primary completion date: March 11, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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

Related Conditions & MeSH terms

• Batten Disease
• Neuronal Ceroid Lipofuscinosis CLN3
• Neuronal Ceroid Lipofuscinosis CLN6
• Neuronal Ceroid-Lipofuscinoses

Locations

Country	Name	City	State
United States	University of Rochester Medical Center	Rochester	New York

Sponsors (1)

Lead Sponsor	Collaborator
Amicus Therapeutics

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).		10 years
Primary	Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).		10 years
Primary	Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).		10 years
Primary	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