An observational study in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and Batten Disease, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 1 site in United States. Open to participants aged 1 Week to 100 Years. Per ClinicalTrials.gov, last updated 2026-09-22.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
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:
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.
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Study Description:
The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial, and to establish a biorepository of samples from participants with CLN3 or CLN3-
related conditions. For comparisons, focused clinical data and relevant evaluations and biospecimens will also be collected from individuals with Neuronal Ceroids Lipofuscinosis (NCL) of other types and from family members of all affected individuals.
Objectives:
Primary Objective:
Secondary Objectives:
Establish a biorepository of samples from well-characterized individuals with CLN3-related conditions, and family members of individuals with CLN3-related conditions, for future research related to CLN3.
Endpoints:
Primary Endpoint:
Secondary Endpoints:
Tolerability and feasibility of each measure of the clinical battery of assessments based on clinician observation.
Individuals with CLN3-Batten and family members who are interested in the study and have consented to enroll.
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:
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:
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:
Sub-Studies A and B:
Unaffected family members of individuals diagnosed with CLN3-Batten
Individuals diagnosed with CLN3-Batten
Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3.
Identification of biomarkers
Time frame: ongoing
Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials
Evaluation of clinical signs and symptoms
Time frame: ongoing
Establish a biorepository of samples from well-characterized CLN3 patients for future research related to CLN3
Collection of biospecimens
Time frame: ongoing
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Neuronal Ceroid-Lipofuscinoses→
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)