Status:
COMPLETED
A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5)
Lead Sponsor:
Neurogene Inc.
Conditions:
Ceroid Lipofuscinosis, Neuronal 5
Eligibility:
All Genders
Brief Summary
CLN5 is a form of Batten Disease, a neurodegenerative disorder in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and has no available treatments....
Detailed Description
Neuronal Ceroid Lipofuscinosis (NCL) are comprised of a group of fatal neurodegenerative diseases caused by mutations in an enzyme or protein which results in the accumulation of toxic deposits in the...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- Age at disease onset of ≤ 5 years of age.
- Molecular genetic diagnosis confirming the presence of pathogenic or likely pathogenic variant(s) on both alleles (biallelic) of the CLN5 gene.
- For Prospective Arm only:
- Subject age of ≤ 9 years.
- Hamburg motor and vision score of ≥ 1 at time of consent.
- Subject must have a caregiver available to support the subject and attend visits with the subject.
- Exclusion Criteria - All Subjects:
- Has another neurologic disease or illness that may have caused cognitive decline before study entry.
- Has a known pathogenic or clinically suspected mutation in a seizure associated genetic mutation besides CLN5.
- Any prior participation in a study in which a gene therapy vector or stem cell transplantation was administered.
- Participation in other investigational studies and non-interventional studies that have similar study assessments as this protocol while the subject is enrolled in this study is prohibited.
Exclusion
Key Trial Info
Start Date :
March 13 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 30 2024
Estimated Enrollment :
37 Patients enrolled
Trial Details
Trial ID
NCT03822650
Start Date
March 13 2019
End Date
May 30 2024
Last Update
June 27 2024
Active Locations (1)
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1
University of Rochester Medical Center
Rochester, New York, United States, 14642