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

Status: Recruiting
Location: See location...
Study Type: Observational
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).

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
Italy
IRCCS Fondazione Stella Maris
RECRUITING
Pisa
Contact Information
Primary
Filippo M Santorelli, Dr.
filippo.santorelli@fsm.unipi.it
+39 050886275
Backup
Stefania Della Vecchia, Dr.
stefania.dellavecchia@fsm.unipi.it
Time Frame
Start Date: 2024-07-19
Estimated Completion Date: 2027-07-19
Participants
Target number of participants: 50
Sponsors
Leads: IRCCS Fondazione Stella Maris
Collaborators: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Bambino Gesù Hospital and Research Institute

This content was sourced from clinicaltrials.gov