Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
Dr. Rebecca Schule
2,000 participants
Oct 14, 2019
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria8
- One of the following:
- Primary participant: Clinical or genetic diagnosis of HSP or a related disorder
- 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
- Unrelated healthy control able to give informed consent
- AND
- Written informed consent
- AND
- \- Participants are willing and able to comply with study procedures
Exclusion Criteria2
- 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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Interventions
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.
Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
Locations(13)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT03981276