Skip to main content
OpenTrials
Recruiting

NCT Number: NCT06572046

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

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).

Recruiting

Interested in participating?

Request Info

Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

The registry will involve five recruiting clinical centres (IRCCS Fondazione Stella Maris in Pisa, IRCCS Eugenio Medea in Conegliano, IRCCS Policlinico Gemelli in Rome, IRCCS Istituto di Scienze Neurologiche in Bologna, Università degli studi di Messina) and a data analysis partner (CINECA).

Participants will be assessed annually at one of the five 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 HSP 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 SPRS scale) and quality of life questionnaires. 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 STOP-HSP.net. 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 STOP-HSP.net register in pseudonymized form.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. 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

    Time frame: five years

  2. Definition of genotype-specific disease progression measured by evaluating the scores of the clinical scale "Spastic Paraplegia Rating Scale" (SPRS)

    Time frame: five years

    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.

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

    Time frame: five years

Study contacts

Contact information is provided by the study sponsor or research team.

Filippo M Santorelli, Dr.

CONTACT

[email protected]

+39 050886275

Sara Satolli, Dr.

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

IRCCS Fondazione Stella Maris

Other

Collaborators

  • CINECA
  • Catholic University of the Sacred Heart
  • Fondazione Telethon
  • IRCCS Eugenio Medea
  • IRCCS Istituto delle Scienze Neurologiche di Bologna
  • Università degli studi di Messina

Registry information

Important dates

Study start
2024
Primary completion
2027
Study completion
2029
First posted
Aug 26, 2024
Registry last updated
Mar 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.