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Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

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ClinicalTrials.gov Identifier: NCT03307304
Recruitment Status : Recruiting
First Posted : October 11, 2017
Last Update Posted : July 15, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

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. 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.


Condition or disease
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3, Batten Disease) Batten Disease

Detailed Description:
Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease, CLN3) is a recessive, fatal, lysosomal storage disease that results in progressive neurodegeneration. In aggregate, the 13 disorders of neuronal ceroid lipofuscinosis are considered the most common neurodegenerative disorders in children with incidence estimates ranging from 1/12,500 to 1/100,000 in European and USA populations. Neurological symptoms of CLN3 typically manifest between 4 and 7 years of age. The initial clinical presentation is progressive vision loss and cognitive impairment, followed by insidious progression of motor dysfunction and onset of seizures. Affected individuals generally succumb to the disease in young adulthood. There is no effective treatment for CLN3. A major impediment to the testing of potential therapeutic interventions is the lack of well-defined outcome measures. 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 CLN3 participants. 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.

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)
Actual Study Start Date : November 27, 2017
Estimated Primary Completion Date : December 31, 2030
Estimated Study Completion Date : December 31, 2030


Group/Cohort
Family members
Unaffected family members of individuals diagnosed with CLN3-Batten
Proband/Affected Individuals
Individuals diagnosed with CLN3-Batten



Primary Outcome Measures :
  1. Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3. [ Time Frame: Ongoing ]
    Identification of biomarkers

  2. Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials. [ Time Frame: Ongoing ]
    Evaluation of clinical signs and symptoms


Secondary Outcome Measures :
  1. Establish a biorepository of samples from wellcharacterized CLN3 patients for future research related to CLN3 [ Time Frame: Ongoing ]
    Collection of biospecimens



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with CLN3-Batten and family members who are interested in the study and have consented to enroll.
Criteria
  • INCLUSION CRITERIA:

Main Study:

Individuals with a diagnosis of CLN3

-Diagnosis of CLN3 determined by one of the following:

  • a. Two CLN3 mutations
  • b. One CLN3 mutation AND

    • clinical presentation suggestive of CLN3, OR
    • characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits)

Sub-Study A:

Individuals with a diagnosis of CLN3

-Diagnosis of CLN3 determined by one of the following:

  • a. Two CLN3 mutations
  • b. 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 who have family member(s) diagnosed with CLN3

Sub-Study B:

Individuals with a clinical diagnosis of CLN3 or NCL.

OR

Individuals who have family member(s) diagnosed with CLN3 or NCL.

EXCLUSION CRITERIA:

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.

Sub-Study:

-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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03307304


Contacts
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Contact: An N Dang Do, M.D. (301) 496-8849 an.dangdo@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
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Principal Investigator: An N Dang Do, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Additional Information:
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Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT03307304     History of Changes
Other Study ID Numbers: 180002
18-CH-0002
First Posted: October 11, 2017    Key Record Dates
Last Update Posted: July 15, 2019
Last Verified: July 11, 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Batten Disease
Neurodegenerative
Lysosomal Storage
Biomarkers
Longitudinal Study

Additional relevant MeSH terms:
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Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases