Actively Recruiting

All Genders
NCT06844877

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

Led by IRCCS Fondazione Stella Maris · Updated on 2026-03-27

50

Participants Needed

1

Research Sites

156 weeks

Total Duration

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Sponsors

I

IRCCS Fondazione Stella Maris

Lead Sponsor

F

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Collaborating Sponsor

AI-Summary

What this Trial Is About

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).

CONDITIONS

Official Title

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

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Genetically confirmed diagnosis of neuronal ceroid lipofuscinosis
  • Participants or their parents/legal guardians must provide informed consent for enrollment and data privacy
Not Eligible

You will not qualify if you...

  • Diagnosis of other neurodegenerative diseases
  • Lack of informed consent

AI-Screening

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Trial Site Locations

Total: 1 location

1

IRCCS Fondazione Stella Maris

Pisa, Italy, 56128

Actively Recruiting

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Research Team

F

Filippo M Santorelli, Dr.

CONTACT

S

Stefania Della Vecchia, Dr.

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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