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).
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
subjects affected by other forms of neurodegenerative diseases.
lack of informed consent
IRCCS Fondazione Stella Maris
Lead sponsor
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Collaborator
Bambino Gesù Hospital and Research Institute
Collaborator