Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
NCT ID: NCT03981276
Last Updated: 2021-05-19
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
2000 participants
OBSERVATIONAL
2019-10-14
2041-08-31
Brief Summary
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Detailed Description
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Optionally, additional examinations may be performed including imaging, quantitative movement analysis, neuropsychological examinations, analysis of patient or observer reported outcomes and OMICS analysis to characterize molecular biomarkers.
In participants without a genetic diagnosis, next generation sequencing may be performed.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Primary participant:
Participants affected by hereditary spastic paraplegia (HSP) or a phenotypically related disorder Primary participants will be followed at annual intervals. The workup includes clinical, imaging, sensor-based, patient/observer reported and molecular outcome parameters and biosampling.
Participants with unknown genetic diagnosis may receive genetic testing including whole exome or whole genome sequencing and other OMICS techniques.
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
Secondary participant/ First or second-degree
First or second degree unaffected family members of primary participants. Secondary participants may undergo the same study procedures as primary participants.
Next-Gen Sequencing (NGS)
Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
Unrelated healthy control
Unrelated healthy controls Healthy controls may undergo the same study procedures as primary participants.
Next-Gen Sequencing (NGS)
Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
Interventions
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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
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
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
* For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent
ALL
Yes
Sponsors
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German Federal Ministry of Education and Research
OTHER_GOV
German Center for Neurodegenerative Diseases (DZNE)
OTHER
Dr. Rebecca Schule
OTHER
Responsible Party
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Dr. Rebecca Schule
Principal Investigator, Leading Consultant
Principal Investigators
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Rebecca Schüle, PD Dr.
Role: PRINCIPAL_INVESTIGATOR
University Hospital Tübingen
Locations
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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
Countries
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Central Contacts
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Facility Contacts
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Related Links
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Website of the TreatHSP consortium
Website of the HSP Registry
Other Identifiers
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01GM1905
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
HSP-PBP
Identifier Type: -
Identifier Source: org_study_id
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