Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

  • STATUS
    Recruiting
  • End date
    Dec 31, 2050
  • participants needed
    300
  • sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Updated on 23 May 2022
seizure
genetic disorder
ceroid lipofuscinosis
batten

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.

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.

Details
Condition Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Clinical Study IdentifierNCT03307304
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last Modified on23 May 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Main Study
Individuals > 1 week of age 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 > 1 week of age 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 > 1 month of age who have family member(s) diagnosed with CLN3
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

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-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
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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