Natural History Study of Batten Disease

Natural History Study of Batten Disease

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.

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