A Retrospective, Natural History Study in Children With CLN2

Withdrawn

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

• Registration Number: NCT04480476
• Lead Sponsor: REGENXBIO Inc.

Brief Summary

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

Detailed 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.

Study Timeline

• Study First Submitted: 2020-07-10
• Study First Submitted QC: 2020-07-17
• Study First Posted: 2020-07-21
• Study Start: 2021-03-31
• Status Verified: 2021-10
• Last Update Submitted: 2021-10-25
• Last Update Posted: 2021-11-01
• Primary Completion: 2022-04
• Study Completion: 2022-04

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

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.

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Exclusion Criteria

No exclusion criteria apply to this study.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Characterize retinal structural changes in children with CLN2	From first available medical chart through informed consent, an average of 10 years	As assessed in by SD-OCT measures in ophthalmic records of children with CLN2

Secondary Outcome Measures

Name	Time	Method
Characterize changes in visual function.	From first available medical chart through informed consent, an average of 10 years	As measured by changes in visual acuity over time in ophthalmic records of children with CLN2.