A Retrospective, Natural History Study in Children With CLN2

REGENXBIO Inc.

Overview

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

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.

Study Type

OBSERVATIONAL

Conditions

Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

Characterize retinal structural changes in children with CLN2

As assessed in by SD-OCT measures in ophthalmic records of children with CLN2

Time frame: From first available medical chart through informed consent, an average of 10 years

Secondary Outcomes

Characterize changes in visual function.

As measured by changes in visual acuity over time in ophthalmic records of children with CLN2.

Time frame: From first available medical chart through informed consent, an average of 10 years

Data from ClinicalTrials.gov

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