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.

Inclusion Criteria:

• 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

Exclusion Criteria:

• subjects affected by other forms of neurodegenerative diseases.
• lack of informed consent

Subjects affected by NCLs with a genetic or ultrastructural characterization

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.

january 2027

Collaborative research centers working on NCL