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Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

NCT03862274 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2025-10-24

No results posted yet for this study

Summary

The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa. This study aims to validate standardized assessment measures to establish a standard of care. The secondary aim is to compare cognitive and developmental outcomes of patients with CLN2 that are receiving celiponase alfa to a natural history cohort. To accomplish specific aims of the study, the investigators will use a multi-method approach to collect retrospective data collected as standard of care and prospective developmental data in children with CLN2 disease. The investigators will use a combination of standardized measures that include direct assessment and parent report of child development. The investigators focus will also include multiple measures of development including language, motor, social-emotional, and adaptive functioning.

Conditions

  • Batten Disease
  • CLN2
  • Neuronal Ceroid-Lipofuscinoses

Interventions

OTHER

CLN2 Treatment

Patients that have a TPP1 enzyme deficiency and/or confirmed molecular diagnosis of pathogenic variants in the TPP1 gene are eligible to participate if they are receiving cerliponase alfa.

Sponsors & Collaborators

Principal Investigators

  • Jessica Scherr, PhD · Nationwide Children's Hospital

  • Emily de los Reyes, MD · Nationwide Children's Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-12-01
Primary Completion
2025-12-31
Completion
2025-12-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03862274 on ClinicalTrials.gov