Neuronal Ceroid LipofuscinosisNCT06844877
Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies
An observational study of Neuronal Ceroid Lipofuscinosis, run by IRCCS Fondazione Stella Maris at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neuronal Ceroid Lipofuscinosis
- How many people
- 50 participants
- Where
- 1 siteItaly
- Study dates
- 19 Jul 2024to 19 Jul 2027
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects affected by NCLs with a genetic or ultrastructural characterization
Who may be able to join
- 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
Who cannot join
- subjects affected by other forms of neurodegenerative diseases.
- lack of informed consent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Stefania Della Vecchia, Dr. contact
Italy1 site, 1 recruiting
- Recruiting
IRCCS Fondazione Stella Maris
Pisa, 56128
Filippo M Santorelli, Dr., filippo.santorelli@fsm.unipi.it
Stefania Della Vecchia, Dr., stefania.dellavecchia@fsm.unipi.it
About this study
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).
Read the detailed description
The registry will involve three recruiting clinical centres (IRCCS Fondazione Stella Maris in Pisa, Ospedale pediatrico Bambin Gesù in Roma e IRCCS Istituto Neurologico Carlo Besta in Milano). Participants will be assessed annually at one of the three participating clinical sites. For each patient, at least one follow-up visit will be scheduled at an interval of 12 months in order to monitor and compare the longitudinal progression of NCLs in similar groups (for example based on phenotype, age at onset, or genotype). At each visit all enrolled subjects will carry out a clinical-instrumental evaluation as per clinical practice, including: anamnestic collection, general and neurological objective examination; administration of illness scales (e.g. the Hamburg scale, UBDRS) and questionnaires about psychiatric symptoms, sleep disorders and quality of life. Any biological samples will be collected as tissues, blood or urine and stored in the laboratories or bio-repositories of the individual centers and also reported in the electronic clinical report form (CRF) of NCL Registry. The results of further diagnostic tests carried out such as Optical coherence tomography (OCT), brain magnetic resonance imaging (MRI) or neurophysiology performed during diagnostic practice or clinical follow up will also be collected. Any further clinical scales/evaluation questionnaires to be administered will be selected according to clinical need based on the neurological characteristics and genotype of each participant. All data relating to further instrumental and/or neurophysiological investigations carried out by the patient for clinical needs will also be collected.
The data collected during the aforementioned clinical-instrumental-laboratory evaluations will be entered into the Italian NCL registry in pseudonymized form.
- Conditions
- Neuronal Ceroid Lipofuscinosis
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2025
- Study start19 Jul 2024
- Primary completion19 Jul 2026 (estimated)
- Study completion19 Jul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuronal Ceroid LipofuscinosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 50 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- IRCCS Fondazione Stella Maris
- Sponsor type
- University, hospital or other
- Collaborators
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Bambino Gesù Hospital and Research Institute
- Responsible party
- Principal investigator, Filippo Maria Santorelli, IRCCS Fondazione Stella Maris
- Investigators
- Filippo M Santorelli, Dr., Principal investigator, IRCCS Fondazione Stella Maris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06844877
- Sponsor's protocol ID
- Italian NCL Registry
- Status last verified
- Mar 2026
- First submitted
- 10 Feb 2025
- Last updated
- 27 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies
- ClinicalTrials.gov ID
- NCT06844877
- Acronym / sponsor ID
- Italian NCL Registry
- Conditions
- Neuronal Ceroid Lipofuscinosis
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- IRCCS Fondazione Stella MarisUniversity, hospital or other
- Collaborators
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Bambino Gesù Hospital and Research Institute
- Study start
- 19 Jul 2024 (actual)
- Primary completion
- 19 Jul 2026 (estimated)
- Study completion
- 19 Jul 2027 (estimated)
- First posted
- 25 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
The registry will involve three recruiting clinical centres (IRCCS Fondazione Stella Maris in Pisa, Ospedale pediatrico Bambin Gesù in Roma e IRCCS Istituto Neurologico Carlo Besta in Milano). Participants will be assessed annually at one of the three participating clinical sites. For each patient, at least one follow-up visit will be scheduled at an interval of 12 months in order to monitor and compare the longitudinal progression of NCLs in similar groups (for example based on phenotype, age at onset, or genotype). At each visit all enrolled subjects will carry out a clinical-instrumental evaluation as per clinical practice, including: anamnestic collection, general and neurological objective examination; administration of illness scales (e.g. the Hamburg scale, UBDRS) and questionnaires about psychiatric symptoms, sleep disorders and quality of life. Any biological samples will be collected as tissues, blood or urine and stored in the laboratories or bio-repositories of the individual centers and also reported in the electronic clinical report form (CRF) of NCL Registry. The results of further diagnostic tests carried out such as Optical coherence tomography (OCT), brain magnetic resonance imaging (MRI) or neurophysiology performed during diagnostic practice or clinical follow up will also be collected. Any further clinical scales/evaluation questionnaires to be administered will be selected according to clinical need based on the neurological characteristics and genotype of each participant. All data relating to further instrumental and/or neurophysiological investigations carried out by the patient for clinical needs will also be collected.
The data collected during the aforementioned clinical-instrumental-laboratory evaluations will be entered into the Italian NCL registry in pseudonymized form.
Study design
- Observational model
- Other
- Time perspective
- Other
- Target follow-up
- 10 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects affected by NCLs with a genetic or ultrastructural characterization
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (2 listed)
- subjects affected by other forms of neurodegenerative diseases.
- lack of informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Establishment of the NCL Italian Registry to systematically document the clinical presentation and natural history of patients affected by NCLs
Time frame: 12 months
We will record information related to NCL natural history in 10 patients
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2026.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Stefania Della Vecchia, Dr. contact
Filippo M Santorelli, Dr. principal investigator
IRCCS Fondazione Stella Maris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuronal Ceroid Lipofuscinosis, run by IRCCS Fondazione Stella Maris at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Filippo M Santorelli, Dr. (+39 050886275, filippo.santorelli@fsm.unipi.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establishment of the NCL Italian Registry to systematically document the clinical presentation and natural history of patients affected by NCLs (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2026.