STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies

NCT06572046 | Recruiting

• 1 other identifier: STOP-HSP.net
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

Hereditary Spastic Paraplegia

Outcome Measures

Primary Outcomes (3)

• 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

  five years

• 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.

  five years

• Identification of new genetic forms of HSP through the use of Whole Genome Sequencing (WGS) in selected familial cases

  five years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects affected by HSP both with a known genetic diagnosis and in the absence of genotypic characterization

You may qualify if:

• 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

You may not qualify if:

• subjects affected by secondary forms of HSP
• presenting comorbidities that affect the general clinical picture according to clinical judgment
• lack of informed consent

Sponsors & Collaborators

• IRCCS Fondazione Stella Maris: lead
• 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

Study Sites (1)

IRCCS Fondazione Stella Maris

Pisa, 56128, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood, urine, skin biopsy, muscle biopsy, cerebrospinal fluid (all samples are optional)

MeSH Terms

Conditions

Spastic Paraplegia, Hereditary

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Filippo M Santorelli, Dr.

  IRCCS Fondazione Stella Maris

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Filippo M Santorelli, Dr.

CONTACT

+39 050886275; filippo.santorelli@fsm.unipi.it

Sara Satolli, Dr.

CONTACT

sara.satolli@fsm.unipi.it

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director of Molecular Medicine

Study Record Dates

• First Submitted: August 21, 2024
• First Posted: August 26, 2024
• Study Start: January 24, 2024
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2029
• Last Updated: March 27, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, CSR

Locations

IT (1)