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 21 July 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

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 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.

Objectives

Primary Objective:

  1. Identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3.
  2. Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials.

Secondary Objectives:

Establish a biorepository of samples from well-characterized individuals with CLN3, and family members of CLN3 individuals, 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.

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 on21 July 2022

Eligibility

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact

site

0/250

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

Learn more

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.

Learn more

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

Learn more

Similar trials to consider

Loading...

Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 

 • 

Private

Reply by • Private
Loading...

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.
Loading...

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note