An Observational Study in Children With CLN2 Batten Disease

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

Status

Withdrawn

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04462692

Enrollment

Registered

2020-07-08

Start date

2021-03-31

Completion date

2023-10-31

Last updated

2021-11-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Keywords

CLN2, Batten Disease

Brief summary

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.

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
Change in visual function	96 weeks	As assessed by visual acuity over time.

Outcome results