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

Launched by IRCCS FONDAZIONE STELLA MARIS · Feb 19, 2025

Keywords

ClinConnect Summary

The Italian NCL Registry is a study aimed at gathering important information about patients with Neuronal Ceroid Lipofuscinosis (NCL), a rare genetic condition that affects the brain and nervous system. The main goal of this registry is to collect and manage data from patients over time, which will help researchers better understand the disease and develop new treatments. By using detailed assessments and feedback from patients and their families, this registry will create a clearer picture of how NCL affects individuals, which is crucial for future clinical trials.

To participate in this study, individuals need to have a confirmed genetic diagnosis of NCL and provide consent for their information to be collected. The registry is open to patients of all ages and genders, but those with other neurodegenerative diseases cannot join. Participants can expect to share their health information and experiences, which will contribute to vital research aimed at improving care and treatment options for NCL patients.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • genetically confirmed diagnosis of neuronal ceroid lipofuscinosis
• • participants/parents/legal guardians will have to give informed consent for enrollment in the registry and privacy data management
• Exclusion Criteria:
• • subjects affected by other forms of neurodegenerative diseases.
• • lack of informed consent