Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
United States300 participantsStarted 2017-11-27
Plain-language summary
Background:
CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want to study CLN3 more so they can improve future therapies.
Objective:
To identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3.
Eligibility:
People with CLN3. It must be based on
Two CLN3 mutations OR
One CLN3 mutation AND findings seen with a powerful microscope
Family members of a person with CLN3.
Design:
Participants will have already been referred to NIH for CLN3 evaluation.
If participants agree to do the study, they will:
1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if they were already collected. These may include cells, surgical specimens, and DNA.
2. will be seen by multiple healthcare specialists.
Participants may provide medical records or photos. Participants will sign a release of medical records form.P
Researchers may send samples or clinical data to other investigators. For research testing, the samples will not include the participant s name. For a test in a clinical lab, researchers will include the participant s name. These results will become part of the clinical record at NIH.
Who can participate
Age range
1 Week – 100 Years
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
. Two CLN3 or NCL condition-appropriate genetic mutations
. One CLN3 mutation AND
. Two CLN3 or condition-appropriate genetic mutations
. One CLN3 mutation AND
Exclusion criteria
. Individuals who cannot travel to the NIH because of their medical condition.
. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.
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
Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3.
Timeframe: ongoing
2
Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials
Timeframe: ongoing
Trial details
NCT IDNCT03307304
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
. Unaffected individuals \> 18 years of age who have cognitive impairments.
. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.