An Observational Study in Children With CLN2 Batten Disease

REGENXBIO Inc.

Overview

This is a prospective, longitudinal natural history study to document the progression of ocular manifestations of CLN2 disease among a community-dwelling population of pediatric participants affected by this disease.

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 prospective data collection, ocular disease progression in children with a clinical presentation consistent with CLN2 Batten disease undergoing current standard of care for their condition. No investigational product is administered in this observational study.

Study Type

OBSERVATIONAL

Conditions

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. His or her legal guardian(s) is(are) willing and able to provide them written, signed informed consent. 2. Has documented diagnosis of CLN2 disease due to TPP1 deficiency, or has a relative clinically diagnosed with CLN2 with the same mutation as the participant 3. Is currently receiving biweekly ERT treatment with cerliponase alfa Exclusion Criteria: A participant is excluded from the study if any of the following criteria apply: 1. Has had prior treatment with an adeno-associated virus-based AAV gene therapy 2. Is currently participating in a clinical trial of investigational product for the treatment of CLN2 disease

Outcomes

Primary Outcomes

Change in retinal structure in children with CLN2 Batten disease

As assessed by SD-OCT measures over time.

Time frame: 96 weeks

Secondary Outcomes

Change in visual function

As assessed by visual acuity over time.

Time frame: 96 weeks

Change in visual function

As assessed by pupillary light reflex over time.

Time frame: 96 weeks

Data from ClinicalTrials.gov

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