Our goal is to create a solid and harmonious disease registry of patient affected by hereditary spastic paraplegia (HSP) 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).
clinical diagnosis of pure or complex HSP/spastic ataxia, even in the absence of a known genetic diagnosis
participants/parents/legal guardians will have to give informed consent for enrollment in the registry and privacy data management
subjects affected by secondary forms of HSP
presenting comorbidities that affect the general clinical picture according to clinical judgment
lack of informed consent
IRCCS Fondazione Stella Maris
Lead sponsor
IRCCS Eugenio Medea
Collaborator
Università degli studi di Messina
Collaborator
IRCCS Istituto delle Scienze Neurologiche di Bologna
Collaborator
Catholic University of the Sacred Heart
Collaborator
CINECA
Collaborator
Fondazione Telethon
Collaborator