Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders (HSP-PBP)
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- STATUS
- Recruiting
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- End date
- Aug 31, 2041
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- participants needed
- 2000
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- 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.
Description
The investigators will perform a registry-based standardized prospective Natural History Study (NHS) in HSPs and related disorders. Participants will be seen annually. At study visits a standardized clinical examination will be performed including application of clinical rating scales (selection of rating scales may vary depending on the individual phenotype and specific genotype); data will be entered into a clinical database (HSP Registry; https://www.hsp-registry.net). At all study visits, patients will be asked to donate biosamples; biomaterial collection is optional and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy.
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.
Details
| Condition | Hereditary Spastic Paraplegia |
|---|---|
| Treatment | Clinical rating scale to measure disease severity and progression, Next-Gen Sequencing (NGS) |
| Clinical Study Identifier | NCT03981276 |
| Sponsor | Dr. Rebecca Schule |
| Last Modified on | 28 February 2022 |
Eligibility
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