An Observational Study in Children With CLN2 Batten Disease

A Prospective, Observational Study to Evaluate Ocular Disease Progression in Children With CLN2 Batten Disease

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.

Study Overview

• Status: Withdrawn
• Conditions: Neuronal Ceroid Lipofuscinosis Type 2 (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 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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Children with CLN2 Batten disease undergoing current standard of care for their condition.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in retinal structure in children with CLN2 Batten disease	As assessed by SD-OCT measures over time.	96 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in visual function	As assessed by visual acuity over time.	96 weeks
Change in visual function	As assessed by pupillary light reflex over time.	96 weeks

Collaborators and Investigators

• Sponsor: REGENXBIO Inc.

Study record dates

Study Major Dates

• Study Start (Anticipated): March 31, 2021
• Primary Completion (Anticipated): October 1, 2023
• Study Completion (Anticipated): October 1, 2023

Study Registration Dates

• First Submitted: July 2, 2020
• First Submitted That Met QC Criteria: July 2, 2020
• First Posted (Actual): July 8, 2020

Study Record Updates

• Last Update Posted (Actual): November 1, 2021
• Last Update Submitted That Met QC Criteria: October 25, 2021
• Last Verified: October 1, 2021

More Information

Terms related to this study

• Keywords: CLN2, Batten Disease
• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Lipid Metabolism Disorders; Lipidoses; Lipid Metabolism, Inborn Errors; Neuronal Ceroid-Lipofuscinoses
• Other Study ID Numbers: RGX-381-9101

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No