MedTrace Logo

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

NCT03307304 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 300

Last updated 2026-02-24

No results posted yet for this study

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

Sponsors & Collaborators

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

    lead NIH

Principal Investigators

  • An N Dang Do, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
1 Week
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-11-27
Primary Completion
2050-12-31
Completion
2050-12-31

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03307304 on ClinicalTrials.gov