NCT03307304

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. 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. 2.will be seen by multiple healthcare specialists.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
300

participants targeted

Target at P75+ for all trials

Timeline
300mo left

Started Nov 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress26%
Nov 2017Dec 2050

First Submitted

Initial submission to the registry

October 7, 2017

Completed
4 days until next milestone

First Posted

Study publicly available on registry

October 11, 2017

Completed
2 months until next milestone

Study Start

First participant enrolled

November 27, 2017

Completed
33.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2050

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2050

Last Updated

February 24, 2026

Status Verified

February 20, 2026

Enrollment Period

33.1 years

First QC Date

October 7, 2017

Last Update Submit

February 21, 2026

Conditions

Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)Batten Disease

Keywords

Batten DiseaseNeurodegenerativeLysosomal StorageBiomarkersLongitudinal StudyNatural History

Outcome Measures

Primary Outcomes (2)

  • Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3.

    Identification of biomarkers

    ongoing

  • Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials

    Evaluation of clinical signs and symptoms

    ongoing

Secondary Outcomes (1)

  • Establish a biorepository of samples from well-characterized CLN3 patients for future research related to CLN3

    ongoing

Study Arms (2)

Family members

Unaffected family members of individuals diagnosed with CLN3-Batten

Proband/Affected Individuals

Individuals diagnosed with CLN3-Batten

Eligibility Criteria

Age1 Week - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with CLN3-Batten and family members who are interested in the study and have consented to enroll.

You may qualify if:

  • 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
  • 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:
  • Two CLN3 or condition-appropriate genetic mutations
  • 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).
  • Individuals \> 1 month of age who have family member(s) diagnosed with CLN3 or CLN3-related/other NCL-type condition.
  • +3 more criteria

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

  • 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.

    PMID: 36461157DERIVED

  • 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.

    PMID: 34913584DERIVED

  • 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.

    PMID: 33550636DERIVED

Related Links

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • An N Dang Do, M.D.

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

    PRINCIPAL INVESTIGATOR

Central Study Contacts

An N Dang Do, M.D.

CONTACT

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

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 7, 2017

First Posted

October 11, 2017

Study Start

November 27, 2017

Primary Completion (Estimated)

December 31, 2050

Study Completion (Estimated)

December 31, 2050

Last Updated

February 24, 2026

Record last verified: 2026-02-20

Locations

US(1)