Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Keywords
Abstract
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.
Dates
| Last Verified: | 06/22/2020 |
| First Submitted: | 10/06/2017 |
| Estimated Enrollment Submitted: | 10/09/2017 |
| First Posted: | 10/10/2017 |
| Last Update Submitted: | 06/26/2020 |
| Last Update Posted: | 06/29/2020 |
| Actual Study Start Date: | 11/26/2017 |
| Estimated Primary Completion Date: | 12/30/2030 |
| Estimated Study Completion Date: | 12/30/2030 |
Condition or disease
Phase
Arm Groups
| Arm | Intervention/treatment |
|---|---|
| Family members Unaffected family members of individuals diagnosed with CLN3-Batten | |
| Proband/Affected Individuals Individuals diagnosed with CLN3-Batten |
Eligibility Criteria
| Sexes Eligible for Study | All |
| Sampling method | Non-Probability Sample |
| Accepts Healthy Volunteers | Yes |
| 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. |
Outcome
Primary Outcome Measures
1. Identify clinical or biochemical markers that can be used as a therapeutic outcome measures for CLN3. [Ongoing]
2. Evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials. [Ongoing]
Secondary Outcome Measures
1. Establish a biorepository of samples from wellcharacterized CLN3 patients for future research related to CLN3 [Ongoing]
