Batten Disease, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN6
Conditions
Keywords
Neuronal ceroid lipofuscinosis (NCL), CLN6, vLINCL6, CLN6 Batten Disease, Batten Disease, CLN3, CLN3 Batten Disease, variant late infantile
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.
Interventions
None listed
Sponsors
Emily de los Reyes
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS). | 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. | 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). | 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 | — |
Countries
United States
Outcome results
None listed