ClinicalTrials.gov record NCT06572046
STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational registry collects standardized clinical and laboratory information on people with hereditary spastic paraplegia (HSP), including pediatric- and adult-onset cases; secondary (non-hereditary) forms are excluded and enrollment requires informed consent. Participants are seen about once a year for clinical exams, rating scales (for example the Spastic Paraplegia Rating Scale), quality-of-life questionnaires, and collection/storage of biological samples; results of routine imaging and neurophysiology performed in clinical care are also recorded. Data are entered in pseudonymized form to study disease progression and to support future research.
What it is studying. The study aims to document the natural history of HSP, develop clinical outcome measures (including the SPRS), define genotype-specific progression, and identify new genetic forms using whole genome sequencing in selected familial cases.
What the researchers hope to learn. Document the clinical presentation and natural history of pediatric- and adult-onset HSP; develop outcome measures usable in trials; measure genotype-specific disease progression using SPRS; identify new genetic causes of HSP through whole genome sequencing in selected families.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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).
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants attend at least one annual visit at a participating clinical site (a follow-up visit is scheduled about 12 months later). Visits include medical history, general and neurological examination, clinical rating scales (for example the Spastic Paraplegia Rating Scale), and quality-of-life questionnaires. Biological samples (tissue, blood, or urine) may be collected and stored in local laboratories or biorepositories; results of routine diagnostic tests performed in clinical care (for example OCT, brain MRI, neurophysiology) are also collected. All clinical and test data are entered into the registry in pseudonymized form; additional scales or questionnaires may be added based on clinical need and genotype.
How the study is structured. A long-term observational registry. Enrolled participants have annual visits at participating clinical sites for medical history, neurological exams, validated motor and quality-of-life scales, and routine clinical tests. Biological samples (blood, urine, other tissues when available) and results of clinically ordered imaging or neurophysiology are collected and stored pseudonymized. Follow-up is planned over many years (target duration 15 years) with at least one yearly assessment to track progression.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on hereditary spastic paraplegia
Important dates
- Study start
- Jan 24, 2024
- Primary completion
- Dec 31, 2027 (estimated)
- Study completion
- Dec 31, 2029 (estimated)
- Target enrollment
- 500 participants (estimated)
- Last updated on registry
- Mar 27, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- IRCCS Fondazione Stella Maris
- Principal investigator
- Filippo Maria Santorelli, Director of Molecular Medicine
IRCCS Fondazione Stella Maris - Collaborators
- IRCCS Eugenio Medea
- Università degli studi di Messina
- IRCCS Istituto delle Scienze Neurologiche di Bologna
- Catholic University of the Sacred Heart
- CINECA
- Fondazione Telethon
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Filippo M Santorelli, Dr. 📞 +39 050886275 ✉ filippo.santorelli@fsm.unipi.it
- Sara Satolli, Dr. ✉ sara.satolli@fsm.unipi.it
Participating sites (1)
- IRCCS Fondazione Stella MarisRecruiting
Pisa, 56128 · Italy
- Filippo M Santorelli, Dr. · +39 050886275 · filippo.santorelli@fsm.unipi.it
- Sara Satolli, Dr. · sara.satolli@fsm.unipi.it
Terms used on this page · explanations by MedicalUpdates.ai
- disease registry
- An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
- outcome measures
- Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
- biomarkers
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- follow-up
- The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
- magnetic resonance imaging
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
← Back to clinical trials