Registry for patients with 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 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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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• Screening for Neuronal Ceroid Lipofuscinosis Type 2 in Children

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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.