Natural History Study of Batten Disease
Trial Snapshot
- Phase
- Not Applicable
- Status
- Terminated
- Sponsor
- Emily de los Reyes
- Enrollment
- 10
- Locations
- 1
- Primary Endpoint
- Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).
Time Frame: 10 years
The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.
Assess the change over time in rating as determined using the Hamburg Scale.
Time Frame: 10 years
The Hamburg scale is an established tool to capture the rate of decline or regression.
Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).
Time Frame: 10 years
Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).
Time Frame: 10 years
Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).
Time Frame: 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
Time Frame: 10 years
Secondary Outcomes
No secondary outcomes reported
Investigators
Emily de los Reyes
Sponsor-Investigator
Nationwide Children's Hospital