Studying early signs of hereditary spastic paraplegia in at-risk individuals
Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)
This study is trying to find early signs of hereditary spastic paraplegia in people who might be at risk, to better understand how the disease develops before symptoms show up.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 200 (estimated) |
| Ages | 18 Years to 70 Years |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 1 site (Tübingen) |
| Trial ID | NCT03206190 on ClinicalTrials.gov |
What this trial studies
This study aims to collect prospective longitudinal data on the natural progression of hereditary spastic paraplegia type 4 (SPG4) in presymptomatic mutation carriers and those in the early stages of the disease. It will utilize various interventions, including clinical assessments, cognitive testing, lumbar punctures, blood draws, MRI scans, and electrophysiological evaluations to identify biomarkers that provide objective measures of disease activity. The goal is to better understand the disease before clinical symptoms appear and to track its early progression.
Who should consider this trial
Good fit: Ideal candidates include first-degree relatives of SPG4 patients or symptomatic individuals with a known SPAST mutation, aged 18 to 70 years.
Not a fit: Patients without a known SPAST mutation in their family or those with manifest spastic gait may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier diagnosis and intervention strategies for individuals at risk of developing hereditary spastic paraplegia.
How similar studies have performed: While there have been studies on hereditary spastic paraplegia, this specific approach focusing on presymptomatic carriers and early biomarkers is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Tübingen
- University Hospital Tübingen, Center for Neurology — Tübingen, Germany (Recruiting)
Study contacts
- Principal investigator: Ludger Schöls, Prof. — Head of Department
- Study coordinator: Ludger Schöls, Prof.
- Email: ludger.schoels@uni-tuebingen.de
- Phone: +49 7071 / 29
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.