A Retrospective, Natural History Study in Children With CLN2

A Retrospective, Chart Review Study to Evaluate Ocular Disease Progression in Children With Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Status

Withdrawn

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04480476

Enrollment

Registered

2020-07-21

Start date

2021-03-31

Completion date

2022-04-30

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

Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)

Keywords

CLN2, Batten Disease

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

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. 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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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.

Outcome results