A Natural History and Outcome Measure Discovery Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5)
Status: Completed
Location: See location...
Study Type: Observational
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. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CLN5. This natural history study is important to better understand disease course to be able to determine clinically relevant outcome measures for use in future clinical trials.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• 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.
Locations
United States
New York
University of Rochester Medical Center
Rochester
Time Frame
Start Date:2019-03-13
Completion Date:2024-05-30
Participants
Target number of participants:37
Treatments
Prospective
Subjects who meet eligibility criteria and enroll in the prospective arm will be assessed every 6 months ± 4 weeks for a period of up to 3 years, according to the Schedule of Assessments.~Subjects in the Prospective arm may also participate in the Retrospective arm.
Retrospective
Upon confirmation of eligibility criteria, the site will obtain an Informed Consent/Assent form and release of medical records from the subject/legally authorized representative to allow review of the medical records from the subject's primary care physician and/or specialists to confirm the CLN5 diagnosis and disease course. To facilitate collection of the medical records, a caregiver interview will be completed at initial enrollment then once yearly for up to 3 years.