NCT03981276

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 2,000 (estimated)
• Sponsor: Dr. Rebecca Schule · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Conditions

• Hereditary Spastic Paraplegia

Interventions

Type	Name	Description
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

Timeline

• Start date: 2019-10-14
• Primary completion: 2039-08-01
• Completion: 2041-08-01
• First posted: 2019-06-10
• Last updated: 2021-05-19

Locations

13 sites across 3 countries: Austria, Germany, Italy