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
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