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
Subjects affected by HSP both with a known genetic diagnosis and in the absence of genotypic characterization
Other
Other
Not listed
Establishment of the STOP-HSP.net disease registry to systematically document the clinical presentation and natural history of patients affected by both pediatric-onset and adult-onset HSP
Definition of genotype-specific disease progression measured by evaluating the scores of the clinical scale "Spastic Paraplegia Rating Scale" (SPRS)
Spastic Paraplegia Rating Scale (SPRS) is a 13-item scale designed to rate motor impairment in pure or complex forms of spastic paraplegia. Its score varies from 0 to 52, whereas higher scores indicate greater motor impairment.
Identification of new genetic forms of HSP through the use of Whole Genome Sequencing (WGS) in selected familial cases
Click on the lead sponsor to view all of their trials.
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
