Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies
1 other identifier
observational
50
1 country
1
Brief Summary
The goal is to create a solid and harmonious disease registry of patient affected by neuronal ceroid lipofuscinosis (NCLs) that facilitates the collection and management of patients' data over time encouraging the research and the development of future clinical trials. In-depth clinical phenotyping will develop significant clinical outcome measures that can be used in clinical trials and will allow the phenotypic complexity of the disease to be captured with the use of validated clinical scales, biomarkers and so-called patient reported outcomes (PROs).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jul 2024
Typical duration for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 19, 2024
CompletedFirst Submitted
Initial submission to the registry
February 10, 2025
CompletedFirst Posted
Study publicly available on registry
February 25, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 19, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
July 19, 2027
March 27, 2026
March 1, 2026
2 years
February 10, 2025
March 23, 2026
Conditions
Outcome Measures
Primary Outcomes (1)
Establishment of the NCL Italian Registry to systematically document the clinical presentation and natural history of patients affected by NCLs
We will record information related to NCL natural history in 10 patients
12 months
Eligibility Criteria
Subjects affected by NCLs with a genetic or ultrastructural characterization
You may qualify if:
- 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
You may not qualify if:
- subjects affected by other forms of neurodegenerative diseases.
- lack of informed consent
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
IRCCS Fondazione Stella Maris
Pisa, 56128, Italy
Biospecimen
Blood, urine, skin biopsy, muscle biopsy, cerebrospinal fluid (all samples are optional)
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Filippo M Santorelli, Dr.
IRCCS Fondazione Stella Maris
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- OTHER
- Target Duration
- 10 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Director of Molecular Medicine
Study Record Dates
First Submitted
February 10, 2025
First Posted
February 25, 2025
Study Start
July 19, 2024
Primary Completion (Estimated)
July 19, 2026
Study Completion (Estimated)
July 19, 2027
Last Updated
March 27, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, SAP, CSR
- Time Frame
- january 2027
- Access Criteria
- Collaborative research centers working on NCL
The data collected during the clinical-instrumental-laboratory evaluations will be entered into the Italian NCL Registry in pseudonymized form. Each patient will be identified by a progressive code of the electronic CRF together with a unique alphanumeric identification code (automatically generated). This identification code will be used by the Center in place of the relevant name in each communication of the linked data. The Recruiting Center will be the only and exclusive entity able to associate the identification code with the personal data. The data collected in the Italian NCL Registry will be stored on RedCap in pseudonymized form.