A Retrospective, Natural History Study in Children With CLN2

Regenxbio

Status: Withdrawn

Conditions: Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Study type: Observational

Funder types: Industry

Identifiers

NCT04480476

RGX-381-9102

Details and patient eligibility

About

This is a multi center, retrospective, chart review study to document the evolution of ocular disease progression in pediatric patients with CLN2.

Full description

CLN2 is a rare disease with limited available ocular natural history data. While current standard of care slows motor degeneration, it is not known to treat the ocular manifestations of disease. This study is planned to document, through retrospective data collection, ocular disease progression in children with a clinical presentation consistent with CLN2. No investigational product is administered in this retrospective, chart review study.

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

A participant is eligible to be included in the study only if all of the following criteria apply:

1. The participant's legal guardian(s) is(are) willing and able to provide them written, signed informed consent.
2. The participant has a documented diagnosis of CLN2 disease due to TPP1 deficiency, or has a relative clinically diagnosed with CLN2 disease who has the same CLN2 mutations as the participant
3. The participant has had one or more eye examinations by an eye care specialist at any time since birth.

Exclusion criteria

No exclusion criteria apply to this study.