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 : December 20, 2019
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.
To identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3.
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.
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.
|Condition or disease|
|Juvenile Neuronal Ceroid Lipofuscinosis (CLN3, Batten Disease) Batten Disease|
|Study Type :||Observational|
|Estimated Enrollment :||300 participants|
|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|
Unaffected family members of individuals diagnosed with CLN3-Batten
Individuals diagnosed with CLN3-Batten
- Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3. [ Time Frame: Ongoing ]Identification of biomarkers
- Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials. [ Time Frame: Ongoing ]Evaluation of clinical signs and symptoms
- Establish a biorepository of samples from wellcharacterized CLN3 patients for future research related to CLN3 [ Time Frame: Ongoing ]Collection of biospecimens
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
|Contact: An N Dang Do, M.D.||(301) firstname.lastname@example.org|
|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 email@example.com|
|Principal Investigator:||An N Dang Do, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|