Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders

Recruiting

• Conditions: Hereditary Spastic Paraplegia

• Registration Number: NCT03981276
• Lead Sponsor: Dr. Rebecca Schule

Brief 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.

Detailed 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.

Study Timeline

• Study First Submitted: 2019-06-04
• Study First Submitted QC: 2019-06-07
• Study First Posted: 2019-06-10
• Study Start: 2019-10-14
• Status Verified: 2021-05
• Last Update Submitted: 2021-05-18
• Last Update Posted: 2021-05-19
• Primary Completion: 2039-08
• Study Completion: 2041-08

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 2000

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change from baseline of Spastic Paraplegia Rating Scale (SPRS) total score at 2 years	up to 2 years	Disease severity will be assessed by application of the Spastic Paraplegia Rating Scale (SPRS), a clinical rating scale measuring disease severity in Hereditary Spastic Paraplegia (Schüle et al. Neurology 2006). The SPRS contains 13 items, each ranging from 0 to 4 points. The total score is calculated as the sum of all items, yielding a range for the total score between 0 and 52. Hereby, higher SPRS total scores indicate more severe disease.

Trial Locations

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

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