Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)NCT03307304
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
An observational study of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and Batten Disease, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 week to 100 years
- Conditions the study is for
- Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Nov 2017to 31 Dec 2050
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 week to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with CLN3-Batten and family members who are interested in the study and have consented to enroll.
Who may be able to join
- 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:
- Two CLN3 or NCL condition-appropriate genetic mutations
- One CLN3 mutation AND
Show all 20Show fewer
- clinical presentation suggestive of CLN3, OR
- 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:
- Two CLN3 or condition-appropriate genetic mutations
- One CLN3 mutation AND
- clinical presentation suggestive of CLN3, OR
- 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.
Who cannot join
- Main Study:
- Individuals who cannot travel to the NIH because of their medical condition.
- 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.
- Females who are pregnant.
- Sub-Studies A and B:
- Unaffected individuals > 18 years of age who have cognitive impairments.
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
Official title: Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and CLN3-Related Conditions
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.
Read more
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:
- 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.
- 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.
Read the detailed description
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:
- Identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3-related conditions.
- 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:
- Blood, urine, or CSF biomarkers.
- Proportion of participants who achieve a clinically valid and interpretable score on administered measures.
- Scores obtained for each administered measure.
Secondary Endpoints:
Tolerability and feasibility of each measure of the clinical battery of assessments based on clinician observation.
- Keywords
- Batten Disease, Neurodegenerative, Lysosomal Storage, Biomarkers, Longitudinal Study, Natural History
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Family members | Unaffected family members of individuals diagnosed with CLN3-Batten | |
| Proband/Affected Individuals | Individuals diagnosed with CLN3-Batten |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3.
Identification of biomarkers
Measured: ongoing
Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials
Evaluation of clinical signs and symptoms
Measured: ongoing
Secondary outcomes (1)
Establish a biorepository of samples from well-characterized CLN3 patients for future research related to CLN3
Collection of biospecimens
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Oct 2017
- Study start27 Nov 2017
- Primary completion31 Dec 2050 (estimated)
- Study completion31 Dec 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- An N Dang Do, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03307304
- Sponsor's protocol ID
- 180002
- Other IDs
- 18-CH-0002
- Status last verified
- 30 Sep 2026
- First submitted
- 7 Oct 2017
- Last updated
- 5 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 36461157Dang 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.
PubMed 34913584Abdennadher 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.
PubMed 33550636
Study at a glance
From the registry record, last updated by the sponsor on 5 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and CLN3-Related Conditions
- ClinicalTrials.gov ID
- NCT03307304
- Acronym / sponsor ID
- 180002
- Keywords
- Batten Disease, Neurodegenerative, Lysosomal Storage, Biomarkers, Longitudinal Study, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 27 Nov 2017 (actual)
- Primary completion
- 31 Dec 2050 (estimated)
- Study completion
- 31 Dec 2050 (estimated)
- First posted
- 11 Oct 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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.
- 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.
Detailed description
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:
- Identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3-related conditions.
- 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:
- Blood, urine, or CSF biomarkers.
- Proportion of participants who achieve a clinically valid and interpretable score on administered measures.
- Scores obtained for each administered measure.
Secondary Endpoints:
Tolerability and feasibility of each measure of the clinical battery of assessments based on clinician observation.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Family members | – | –Unaffected family members of individuals diagnosed with CLN3-Batten |
| Proband/Affected Individuals | – | –Individuals diagnosed with CLN3-Batten |
Who may qualify
- Ages
- 1 week to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with CLN3-Batten and family members who are interested in the study and have consented to enroll.
Key inclusion criteria (20 listed)
- 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.
- 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:
- Two CLN3 or NCL condition-appropriate genetic mutations
- One CLN3 mutation AND
Key exclusion criteria (7 listed)
- Individuals who cannot travel to the NIH because of their medical condition.
- 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.
- Females who are pregnant.
- Unaffected individuals > 18 years of age who have cognitive impairments.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3.
Time frame: ongoing
Identification of biomarkers
Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials
Time frame: ongoing
Evaluation of clinical signs and symptoms
1 secondary outcome
Establish a biorepository of samples from well-characterized CLN3 patients for future research related to CLN3
Time frame: ongoing
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Oct 2026.
- Derived from this study: PubMed 36461157Luckett 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.
- Derived from this study: PubMed 34913584Dang 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.
- Derived from this study: PubMed 33550636Abdennadher 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
An N Dang Do, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and Batten Disease, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 20 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact An N Dang Do, M.D. ((301) 496-8849, an.dangdo@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3. (time frame: ongoing). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03307304, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Oct 2026.