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)
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:
- 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.
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 Identifier | NCT03307304 |
| Sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| Last Modified on | 23 May 2022 |
How to participate?
,
You have contacted , on
Your message has been sent to the study team at ,
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
Primary Contact
Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.
Learn moreIf 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 moreComplete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.
Learn moreSimilar trials to consider
Browse trials for
Not finding what you're looking for?
Sign up as a volunteer to stay informed
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