Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · Oct 10, 2017

Keywords

ClinConnect Summary

This clinical trial is studying Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), also known as Batten disease, a rare genetic disorder that affects the brain and nervous system. The goal of the research is to find signs (called clinical or biochemical markers) that can help evaluate new treatments for this condition. Participants in the study can include anyone diagnosed with CLN3, which typically shows up in childhood, as well as family members of those affected by the disease. To be eligible, individuals must have specific genetic changes related to CLN3 or certain findings observed through detailed examinations.

If you or a loved one decides to participate, you will be asked to provide samples of spinal fluid, blood, urine, and skin, and you may also meet with various healthcare specialists. The study's design allows for ongoing follow-ups, so researchers can gather important information over time. It’s important to know that while the study aims to improve understanding and treatment of CLN3, participation is voluntary, and all personal information will be handled carefully to protect privacy.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • For the Main and Sub-Studies, participants \> 1 week of age, of all genders, demographics, geographic locations, and disease severity will be recruited in order to obtain cross-sectional representation of CLN3 (Main and Sub-Studies) or all NCLs (Sub-Study B). Participants in the Main study will be followed at approximately yearly intervals to obtain longitudinal data. Participants in Sub-Study A may elect to send in medical records and samples only, or to come to the NIH for evaluations as outlined in Section 4. We anticipate that
• • participants in Sub-Study B will be seen mostly at NCL/CLN3-related family conferences.
• Main Study:
• Individuals \> 1 week of age with a diagnosis of CLN3. Diagnosis of CLN3 determined by one of the following:
• • 1. Two CLN3 mutations
• • 2. One CLN3 mutation AND
• • i) clinical presentation suggestive of CLN3, OR
• • ii) 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:
• • 1. Two CLN3 mutations
• • 2. One CLN3 mutation AND
• • i) clinical presentation suggestive of CLN3, OR
• • ii) 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:
• • 1. Individuals who cannot travel to the NIH because of their medical condition.
• • 2. 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.
• • 3. Females who are pregnant.
• Sub-Studies A and B:
• • 1. Unaffected individuals \> 18 years of age who have cognitive impairments.
• • 2. 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.