ClinicalTrials.gov record NCT03206190
The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)
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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 diagnostic study follows people with or at risk for SPG4 (hereditary spastic paraplegia type 4), including presymptomatic mutation carriers and non-carriers. Participants have clinical exams, functional walking and stair tests, cognitive testing, electrophysiology, MRI (optional), and blood and CSF collection (optional) over time. The study aims to identify early clinical signs and biomarkers before overt disease onset.
What it is studying. The study is testing which clinical measures, imaging changes, and fluid biomarkers change before and during the early stages of SPG4. It seeks to define the time course of recognisable signs or symptoms prior to disease onset (disease-onset here is defined by a spastic gait plus at least one additional feature such as manifest spasticity, a positive Babinski sign, or a pyramidal pattern of muscle weakness).
What the researchers hope to learn. Collect prospective longitudinal data on the natural course of SPG4 in presymptomatic and early-stage individuals. Identify objective biomarkers (clinical, imaging, and fluid) that track disease activity or subclinical progression. Determine which tests detect early or subclinical changes and compare mutation carriers with non-carriers.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
Study goals
- Prospective longitudinal data on progression in the natural course of SPG4 in presymptomatic mutation carriers prior to clinical disease onset and in early stages of disease
- Biomarkers providing objective measures of disease activity
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Diagnostic test
- Lumbar Puncture and blood draw
- MRI
- Electrophysiology
- Testing functional performance
- Non motor symptoms
- Behavioral
- Cognition Testing using CANTAB
- Other
- SPRS Score and clinical signs
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- First degree relatives (parents, offspring, and sibs) of SPG4 patients or symptomatic individuals with known SPAST mutation
- Age 18 to 70 years
- Written, informed consent (patient)
Exclusion criteria
- No known SPAST-mutation within the family
- Manifest spastic gait (subclinical signs like increased deep tendon reflexes, positive Babinski sign are allowed)
- Participation in interventional trials
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
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 will have genetic testing (used to assign carrier vs non‑carrier groups). Study visits occur every two years for up to eight years and include a clinical exam with the Spastic Paraplegia Rating Scale (SPRS), cognitive testing (CANTAB and MoCA), questionnaires about non‑motor symptoms (quality of life, fatigue, mood, pain, restless‑legs), and functional tests (3‑minute walk, 5‑stair climb, 10 m walk). They may be asked for blood samples and optionally a lumbar puncture (CSF) and MRI; electrophysiology tests are also performed. Some procedures (CSF/MRI/other biomaterial collection) are not obligatory.
How the study is structured. Non-randomized, parallel-group interventional study with masking listed as triple. Participants are grouped by genetic test result (mutation carrier, non-carrier, and a known-mutation presymptomatic arm). The clinician is blinded to genetic results; assessments are repeated (primary outcome time frame every two years, up to eight years). Tests include the SPRS clinical rating, CANTAB cognition battery, functional performance tests (10 m walk, 5-stair climb, 3-minute walk), electrophysiology, MRI (not obligate), and optional blood and lumbar puncture sampling. Masking applies to the two arms assigned by genetic testing; a third arm of people who already know they carry a SPAST mutation is open (not blinded).
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- The listed sites are in Germany. 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
- Jul 1, 2018
- Primary completion
- December 2029 (estimated)
- Study completion
- December 2031 (estimated)
- Target enrollment
- 200 participants (estimated)
- Last updated on registry
- Aug 23, 2022
- 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
- University Hospital Tuebingen
- Principal investigator
- Prof. Dr. Ludger Schöls, Prinicipal Investigator
University Hospital Tuebingen
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.
- Ludger Schöls, Prof. 📞 +49 7071 / 29 ext. 82057 ✉ ludger.schoels@uni-tuebingen.de
Participating sites (1)
- University Hospital Tübingen, Center for NeurologyRecruiting
Tübingen, 72076 · Germany
- Ludger Schöls, MD · +49 7071 29 82057 · ludger.schoels@uni-tuebingen.de
- Tim W. Rattay, MD
Terms used on this page · explanations by MedicalUpdates.ai
- 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.
- 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.
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.
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