A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5) (NCT03822650) | Clinical Trial Compass
CompletedNot Applicable
A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5)
United States37 participantsStarted 2019-03-13
Plain-language 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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
. 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
. 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Unified Batten Disease Rating Scale (UBDRS)
Timeframe: 3 years
2
Late Infantile Neuronal Ceroid Lipofuscinosis Rating Scale (Hamburg Scale)
. 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.