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Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders

Recruitingn/aAges any - anyAllDr. Rebecca Schule
NCT03981276 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.

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📋 Eligibility rules (as published)
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
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What it tests

  • Clinical rating scale to measure disease severity and progression
  • Next-Gen Sequencing (NGS)
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Where

13 sites
University Innsbruck
Innsbruck, Austria
German Center for Neurodegenerative Diseases (DZNE) Bonn
Bonn, Germany
University of Erlangen
Erlangen, Germany
University Medicine Essen
Essen, Germany
University Göttingen
Göttingen, Germany
University Heidelberg
Heidelberg, Germany
University of Lübeck
Lübeck, Germany
German Center for Neurogedenerative Diseases (DZNE) Magdeburg
Magdeburg, Germany

…and 5 more on ClinicalTrials.gov.

🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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