Understanding Spastic Ataxias and their biomarkers
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
This study is trying to learn more about spastic ataxias and related disorders by tracking how they change over time in participants and looking for genetic clues that could help explain these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 9 sites (Montreal,, Quebec and 8 other locations) |
| Trial ID | NCT04297891 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders through a multicenter natural history approach. Participants will undergo annual standardized clinical examinations and may provide biosamples for biomarker analysis. The study will also investigate genetic etiology and molecular mechanisms, utilizing next-generation sequencing for those without a genetic diagnosis. By establishing a model of disease progression, the study seeks to enhance understanding of cerebellar and corticospinal tract dysfunction.
Who should consider this trial
Good fit: Ideal candidates include individuals with a genetic diagnosis of ARSACS or SPG7 who are clinically manifesting the disease.
Not a fit: Patients without a genetic diagnosis or those with unrelated neurological or psychiatric diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic tools and therapeutic strategies for patients with Spastic Ataxias.
How similar studies have performed: Other studies focusing on natural history and biomarker identification in neurodegenerative diseases have shown promise, suggesting potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * ARSACS cohort: genetic diagnosis of ARSACS and clinically manifest disease * SPG7 cohort: genetic diagnosis of SPG7 and clinically manifest disease * Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND * written informed consent provided AND * Participants are willing and able to comply with study procedures Exclusion Criteria: * Missing informed consent * For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent
Where this trial is running
Montreal,, Quebec and 8 other locations
- Montreal Neurological Institute of McGill University, Department of Neurology and Neurosurgery and Human Genetics — Montreal,, Quebec, Canada (Recruiting)
- Université de Sherbrooke — Saguenay, Quebec, Canada (Recruiting)
- Département d'information médicale (DIM); Département de Biostatistique, Santn 3emé Publique et Information Médicale (BIOSPIM)- Bâtiment Mazarie étage; Hôpitaux Universitaires Pitié Salpêtrière — Paris, France (Recruiting)
- Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases — Tübingen, Baden-Württemberg, Germany (Recruiting)
- University Hospital Essen (AöR) — Essen, Germany (Recruiting)
- IRCCS Fondazione Stella Maris — Pisa, Italy (Recruiting)
- Radboud University Medical Center; Department of Neurology & Donders Institute for Brain, Cognition, and Behaviour — Nijmegen, Netherlands (Recruiting)
- Koç Univ. Hospital, KUTTAMNDAL — Istanbul, Turkey (Recruiting)
- Department of Clinical Neurosciences, University of Cambridge; John Van Geest Cambridge Centre for Brain Repair — Cambridge, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Rebecca Schüle, PD Dr. — University Hospital Tübingen
- Study coordinator: Rebecca Schüle, PD Dr.
- Email: rebecca.schuele-freyer@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.