NCT03307304 · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
What this study is about
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.
View original scientific description
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
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- For the Main and Sub-Studies, participants \> 1 week of age, of all genders, demographics, geographic locations, and disease severity will be recruited in order to obtain cross-sectional representation of CLN3-related conditions (Main and Sub-Studies) or all NCLs (Sub-Study B). Participants in the Main study will be followed at approximately yearly intervals to obtain longitudinal data. Participants in Sub-Study A may elect to send in medical records and samples only, or to come to the NIH for evaluations as outlined in Section 4. We anticipate that participants in Sub-Study B will be seen mostly at NCL/CLN3-related family conferences. Main Study: Individuals \> 1 week of age with a diagnosis of CLN3 or a CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:
- Two CLN3 or NCL condition-appropriate genetic mutations
- One CLN3 mutation AND i) clinical presentation suggestive of CLN3, OR ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits). Sub-Study A: Individuals \> 1 week of age with a diagnosis of CLN3 or CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:
- Two CLN3 or condition-appropriate genetic mutations
- One CLN3 mutation AND i) clinical presentation suggestive of CLN3, OR ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits). OR Individuals \> 1 month of age who have family member(s) diagnosed with CLN3 or CLN3-related/other NCL-type condition. Sub-Study B: Individuals \> 1 week of age with a clinical diagnosis of CLN3 or NCL. OR Individuals \> 1 month of age who have family member(s) diagnosed with CLN3 or NCL.
Exclusion criteria
- Main Study:
- 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.
- Females who are pregnant. Sub-Studies A and B:
- 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.
Where
- Bethesda, Maryland
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Feb 24, 2026 · Source of record for eligibility and locations