RECRUITINGOBSERVATIONAL
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
About This Trial
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.
Who May Be Eligible (Plain English)
Who May Qualify:
- 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 willing to sign a consent form
3. Unrelated healthy control able to give willing to sign a consent form
AND
- Written willing to sign a consent form
AND
\- Participants are willing and able to comply with study procedures
Who Should NOT Join This Trial:
- Missing willing to sign a consent form of primary or secondary participant/ healthy control/ legal representatives
- For controls: evidence of a neurodegenerative disease or movement disorders; inability to give willing to sign a consent form
Always talk to your doctor about whether this trial is right for you.
Original Eligibility Criteria
View original clinical language
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
Treatments Being Tested
OTHER
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.
DIAGNOSTIC_TEST
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