An observational study in Neuronal Ceroid Lipofuscinosis, sponsored by IRCCS Fondazione Stella Maris. Recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2026-03-27.
Sponsored by IRCCS Fondazione Stella Maris · Observational
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).
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.
49 studies on the registry are indexed under Neuronal Ceroid-Lipofuscinoses; 13 are open to participants now.
This study's planned enrollment of 50 is below the median of 57 across 23 observational studies indexed under Neuronal Ceroid-Lipofuscinoses.
Browse Neuronal Ceroid-Lipofuscinoses studies →IRCCS Fondazione Stella Maris is the lead sponsor of 46 studies on the registry; 27 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Subjects affected by NCLs with a genetic or ultrastructural characterization
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Time frame: 12 months
Plan to share: 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.
Supporting information: Study protocol, Statistical analysis plan, Clinical study report
Time frame: january 2027
Access criteria: Collaborative research centers working on NCL
No publications or documents are linked to this record.
Started Jul 2024 (actual). Primary completion is estimated for Jul 2026, 24 months after the start.
How these figures are worked out, and which studies are left out of them.
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Neuronal Ceroid-Lipofuscinoses →
IRCCS Fondazione Stella Maris