Investigating biomarkers for Juvenile Neuronal Ceroid Lipofuscinosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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.
• Email: an.dangdo@nih.gov
• Phone: (301) 496-8849

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.