Investigating biomarkers for Juvenile Neuronal Ceroid Lipofuscinosis

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and CLN3-Related Conditions

This study is trying to find specific markers in blood and other samples from people with Batten disease to help track the disease's progress and support future treatments.

Quick facts

• Study type: Observational
• Enrollment: 300 (estimated)
• Ages: 1 Week to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT03307304 on ClinicalTrials.gov

What this trial studies

This observational study aims to identify clinical and biochemical markers that can serve as therapeutic outcome measures for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), also known as Batten disease. Participants, including individuals diagnosed with CLN3 and their family members, will provide various biological samples such as blood, urine, and spinal fluid. The study will collect baseline and longitudinal data to evaluate the progression of the disease and establish a biorepository for future research. The goal is to enhance understanding of CLN3 and support the development of potential therapies.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with CLN3 based on specific genetic mutations or clinical findings.

Not a fit: Patients without a confirmed diagnosis of CLN3 or those with other types of Neuronal Ceroid Lipofuscinosis may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved methods for assessing treatment outcomes in patients with CLN3.

How similar studies have performed: While there is limited research specifically targeting CLN3, studies on other types of Neuronal Ceroid Lipofuscinosis have shown promise in identifying biomarkers.

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-related conditions (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 or a CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:

1. Two CLN3 or NCL condition-appropriate genetic 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 or CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:

1. Two CLN3 or condition-appropriate genetic 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 or CLN3-related/other NCL-type condition.

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.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: An N Dang Do, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Study coordinator: An N Dang Do, M.D.

Conditions Juvenile Neuronal Ceroid Lipofuscinosis; Batten Disease; Neurodegenerative; Lysosomal Storage; Biomarkers; Longitudinal Study; Natural History