Italian Registry for Neuronal Ceroid Lipofuscinosis to Support Future Treatments and Research

What this Trial Is About

Researchers are establishing the Italian NCL Registry to systematically collect and manage data from patients affected by neuronal ceroid lipofuscinosis NCLs. This observational study aims to support research and the development of future clinical trials by capturing the complex characteristics of NCL through detailed clinical assessments, validated scales, biomarkers, and patient-reported outcomes. The study is coordinated by IRCCS Fondazione Stella Maris and involves multiple clinical centers in Italy. Participants will be assessed annually at one of three clinical sites, where they will undergo comprehensive clinical and neurological examinations, including the use of illness scales such as the Hamburg scale and UBDRS, and questionnaires on psychiatric symptoms, sleep disorders, and quality of life. Biological samples like blood, urine, or tissue may be collected and stored for further analysis. Additional diagnostic tests, including optical coherence tomography, brain MRI, and neurophysiology, performed as part of routine clinical care, will also be recorded. Throughout the study, data collected from clinical evaluations, laboratory tests, and imaging will be entered into the registry in a pseudonymized form to protect patient privacy. Follow-up visits every 12 months will monitor disease progression, allowing comparison across patient groups based on factors like phenotype, genotype, or age at onset. The primary outcome is the establishment of the registry to document the natural history and clinical presentation of NCL over time, supporting ongoing research and potential future therapies.

Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies