Understanding Hereditary Spastic Paraplegias and Related Disorders
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
This study is trying to learn more about Hereditary Spastic Paraplegias and related disorders by following patients over time and looking at their symptoms, genetics, and potential treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 13 sites (Innsbruck and 12 other locations) |
| Trial ID | NCT03981276 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders through a multicenter natural history approach. Participants will undergo annual standardized clinical examinations and have the option to donate biosamples for biomarker analysis. The study will also investigate genetic etiology and molecular mechanisms, utilizing next-generation sequencing for those without a genetic diagnosis. Data will be collected in a clinical database to aid in diagnosis and therapy development.
Who should consider this trial
Good fit: Ideal candidates include individuals with a clinical or genetic diagnosis of HSP or related disorders, as well as unaffected family members or healthy controls.
Not a fit: Patients with evidence of other neurodegenerative diseases or movement disorders may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with Hereditary Spastic Paraplegia.
How similar studies have performed: Other studies focusing on the natural history and biomarkers of neurodegenerative diseases have shown promise, suggesting potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion criteria:
* One of the following:
1. Primary participant: Clinical or genetic diagnosis of HSP or a related disorder
2. Secondary participant: Unaffected family member (1st or 2nd degree relative) of primary participant (with the above-mentioned restrictions for special populations) able to give informed consent
3. Unrelated healthy control able to give informed consent
AND
* Written informed consent
AND
\- Participants are willing and able to comply with study procedures
Exclusion criteria:
* Missing informed consent of primary or secondary participant/ healthy control/ legal representatives
* For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent
Where this trial is running
Innsbruck and 12 other locations
- University Innsbruck — Innsbruck, Austria (Recruiting)
- German Center for Neurodegenerative Diseases (DZNE) Bonn — Bonn, Germany (Recruiting)
- University of Erlangen — Erlangen, Germany (Recruiting)
- University Medicine Essen — Essen, Germany (Recruiting)
- University Göttingen — Göttingen, Germany (Recruiting)
- University Heidelberg — Heidelberg, Germany (Not_yet_recruiting)
- University of Lübeck — Lübeck, Germany (Not_yet_recruiting)
- German Center for Neurogedenerative Diseases (DZNE) Magdeburg — Magdeburg, Germany (Recruiting)
- German Center for Neurodegenerative Diseases (DZNE) München — München, Germany (Recruiting)
- University of Regensburg — Regensburg, Germany (Not_yet_recruiting)
- German Center for Neurodegenerative Diseases (DZNE) Rostock — Rostock, Germany (Not_yet_recruiting)
- University of Tübingen and German Center for Neurodegenerative Diseases (DZNE) Tübingen — Tübingen, Germany (Recruiting)
- IRCCS Medea Scientific Institute, Conegliano-PIeve di Soligo Research Centre — Pieve di Soligo, Italy (Not_yet_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.