Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
NCT ID: NCT03307304
Last Updated: 2025-12-02
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
300 participants
OBSERVATIONAL
2017-11-27
2050-12-31
Brief Summary
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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.
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Detailed Description
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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:
1. Identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3-related conditions.
2. Evaluate clinical aspects of CLN3-related conditions to provide tools for future therapeutic trials.
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:
1. Blood, urine, or CSF biomarkers.
2. Proportion of participants who achieve a clinically valid and interpretable score on administered measures.
3. Scores obtained for each administered measure.
Secondary Endpoints:
Tolerability and feasibility of each measure of the clinical battery of assessments based on clinician observation.
Conditions
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Study Design
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COHORT
OTHER
Study Groups
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Family members
Unaffected family members of individuals diagnosed with CLN3-Batten
No interventions assigned to this group
Proband/Affected Individuals
Individuals diagnosed with CLN3-Batten
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
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
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.
1 Week
100 Years
ALL
No
Sponsors
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Responsible Party
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Principal Investigators
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An N Dang Do, M.D.
Role: PRINCIPAL_INVESTIGATOR
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
References
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Luckett A, Yousef M, Tifft C, Jenkins K, Smith A, Munoz A, Quimby R, Porter FD, Dang Do AN. Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis. Am J Med Genet A. 2023 Mar;191(3):711-717. doi: 10.1002/ajmg.a.63064. Epub 2022 Dec 2.
Dang Do AN, Thurm AE, Farmer CA, Soldatos AG, Chlebowski CE, O'Reilly JK, Porter FD. Use of the Vineland-3, a measure of adaptive functioning, in CLN3. Am J Med Genet A. 2022 Apr;188(4):1056-1064. doi: 10.1002/ajmg.a.62607. Epub 2021 Dec 16.
Abdennadher M, Inati S, Soldatos A, Norato G, Baker EH, Thurm A, Bartolini L, Masvekar R, Theodore W, Bielekova B, Porter FD, Dang Do AN. Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures. J Inherit Metab Dis. 2021 Jul;44(4):1013-1020. doi: 10.1002/jimd.12366. Epub 2021 Feb 15.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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18-CH-0002
Identifier Type: -
Identifier Source: secondary_id
180002
Identifier Type: -
Identifier Source: org_study_id
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