Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Public ClinicalTrials.gov record NCT03307304. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and CLN3-Related Conditions
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT03307304
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Enrollment
- 300 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 1 Week to 100 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Nov 26, 2017
- Primary completion
- Dec 30, 2050
- Completion
- Dec 30, 2050
- Last update posted
- Sep 7, 2026
2017 – 2050
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT03307304, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Sep 7, 2026 · Synced Sep 9, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT03307304 live on ClinicalTrials.gov.