Status:
ENROLLING_BY_INVITATION
Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
Lead Sponsor:
Jessica Scherr
Collaborating Sponsors:
BioMarin Pharmaceutical
Conditions:
Batten Disease
CLN2
Eligibility:
All Genders
Brief 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 asses...
Detailed Description
CLN2 disease is a predominantly late infantile form of neuronal ceroid lipofuscinosis and one of the many genetic isoforms of Batten disease. Mutations in the CLN2 gene are characterized by deficient ...
Eligibility Criteria
Inclusion
- Patients that have a TPP1 enzyme deficiency
- Patients have confirmed molecular diagnosis of pathogenic variants in the TPP1 gene
- Patients that are enrolled in post-marketing studies will be allowed to enroll into the current study
Exclusion
- Patients without a diagnosis of CLN2 and deficiency of TPP1
- Patients that are currently enrolled as part of a larger multi-center clinical trial
Key Trial Info
Start Date :
December 1 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2025
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT03862274
Start Date
December 1 2018
End Date
December 1 2025
Last Update
October 24 2025
Active Locations (1)
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1
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205