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Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
Sponsor: Dr. Rebecca Schule
Summary
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
2000
Start Date
2019-10-14
Completion Date
2041-08
Last Updated
2021-05-19
Healthy Volunteers
Yes
Conditions
Interventions
Clinical rating scale to measure disease severity and progression
A 13-item scale to rate functional impairment occurring in pure forms of spastic paraplegia (SP). Additional symptoms constituting a complicated form of SP are recorded in an inventory.
Next-Gen Sequencing (NGS)
Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
Locations (13)
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
German Center for Neurodegenerative Diseases (DZNE) München
München, Germany
University of Regensburg
Regensburg, Germany
German Center for Neurodegenerative Diseases (DZNE) Rostock
Rostock, Germany
University of Tübingen and German Center for Neurodegenerative Diseases (DZNE) Tübingen
Tübingen, Germany
IRCCS Medea Scientific Institute, Conegliano-PIeve di Soligo Research Centre
Pieve di Soligo, Italy