Recruiting

Observational Study

Sponsor:

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Code:

NCT03307304

Conditions

Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

Batten Disease

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

Batten Disease

Study ID

NCT03307304

Start date

Nov 27, 2017

Status verified date

Feb 20, 2026

Completion date

Dec 31, 2050

Anticipated

Primary completion date

Dec 31, 2050

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • 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:

1. Two CLN3 or NCL condition-appropriate genetic mutations
2. 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:

1. Two CLN3 or condition-appropriate genetic mutations
2. 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:

1. Individuals who cannot travel to the NIH because of their medical condition.
2. 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.
3. Females who are pregnant.

Sub-Studies A and B:

1. Unaffected individuals > 18 years of age who have cognitive impairments.
2. 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.

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

Family members

Unaffected family members of individuals diagnosed with CLN3-Batten

Proband/Affected Individuals

Individuals diagnosed with CLN3-Batten

Primary outcome measure

  • Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3. [ Time Frame: ongoing ]
  • Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials [ Time Frame: ongoing ]

Central Contacts and Locations

Central contacts

An N Dang Do, M.D.

(301) 496-8849an.dangdo@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222prpl@cc.nih.gov

More Information

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Last update posted

Sep 8, 2026

Last verified

Feb 20, 2026

Keywords

  • Batten Disease
  • Neurodegenerative
  • Lysosomal Storage
  • Biomarkers
  • Longitudinal Study
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-09-08.