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

NCT03981276 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 2000

Last updated 2021-05-19

No results posted yet for this study

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.

Conditions

  • Hereditary Spastic Paraplegia

Interventions

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

Sponsors & Collaborators

  • German Federal Ministry of Education and Research

    collaborator OTHER_GOV

  • German Center for Neurodegenerative Diseases (DZNE)

    collaborator OTHER

  • Dr. Rebecca Schule

    lead OTHER

Principal Investigators

  • Rebecca Schüle, PD Dr. · University Hospital Tübingen

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-10-14
Primary Completion
2039-08-31
Completion
2041-08-31

Countries

  • Austria
  • Germany
  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03981276 on ClinicalTrials.gov