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Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
Sponsor: Jessica Scherr
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
30
Start Date
2018-12-01
Completion Date
2025-12
Last Updated
2025-10-24
Healthy Volunteers
No
Interventions
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.
Locations (1)
Nationwide Children's Hospital
Columbus, Ohio, United States