Natural History Study of Batten Disease

Emily de los Reyes

Status: Terminated

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

Study type: Observational

Funder types: Other

Identifiers

NCT04644549

BAT-001

Details and patient eligibility

About

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.

Enrollment: 10 patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

10 participants in 2 patient groups

Subjects with CLN6 Batten disease

Subjects with juvenile CLN3 Batten disease