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

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorDr. Rebecca Schule

About this trial

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.

Eligibility criteria

Qualifiers

Primary participant: Clinical or genetic diagnosis of HSP or a related disorder

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

Unrelated healthy control able to give informed consent

Written informed consent

Disqualifiers

Missing informed consent of primary or secondary participant/ healthy control/ legal representatives

For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent

Trial design

Treatments tested in this trial

  • Clinical rating scale to measure disease severity and progression
  • Next-Gen Sequencing (NGS)

Treatment groups

2,000 Participants
are divided into 3 treatment groups

Sponsors and collaborators

Dr. Rebecca Schule

Lead sponsor

University Hospital Tuebingen

Sponsor institution

German Federal Ministry of Education and Research

Collaborator

German Center for Neurodegenerative Diseases (DZNE)

Collaborator