Registry for patients with neuronal ceroid lipofuscinosis
Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies
This study is creating a registry to collect and track information from people with neuronal ceroid lipofuscinosis to help improve future treatments and understand the condition better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | IRCCS Fondazione Stella Maris Academic / other |
| Locations | 1 site (Pisa) |
| Trial ID | NCT06844877 on ClinicalTrials.gov |
What this trial studies
This registry aims to create a comprehensive database of patients affected by neuronal ceroid lipofuscinosis (NCL) to facilitate the collection and management of patient data over time. It will involve annual assessments at three clinical centers, where participants will undergo clinical evaluations, including neurological examinations and the administration of various clinical scales and questionnaires. Biological samples will also be collected for future research, and the registry will help develop significant clinical outcome measures for potential future clinical trials.
Who should consider this trial
Good fit: Ideal candidates include individuals with a genetically confirmed diagnosis of neuronal ceroid lipofuscinosis.
Not a fit: Patients with other forms of neurodegenerative diseases or those unable to provide informed consent may not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could enhance understanding of NCL and support the development of targeted therapeutic strategies.
How similar studies have performed: While similar registries have been established for other conditions, this specific approach for NCL is relatively novel and untested.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Pisa
- IRCCS Fondazione Stella Maris — Pisa, Italy (Recruiting)
Study contacts
- Principal investigator: Filippo M Santorelli, Dr. — IRCCS Fondazione Stella Maris
- Study coordinator: Filippo M Santorelli, Dr.
- Email: filippo.santorelli@fsm.unipi.it
- Phone: +39 050886275
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.