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.
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
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
Probands with a clinical or genetic diagnosis of an HSP and related disorders including pre-manifest individuals will be primarily enrolled in this study (primary participants). Additionally, unaffected family members of primary participants will be enrolled if they are of legal age (\>= 18 years) and able to give informed consent (secondary participants). Unaffected minors will only be enrolled under special circumstances as detailed in paragraph 5.1 (Special Populations - Unaffected minors). Lastly, healthy unrelated controls will be enrolled; these are necessary to contrast unspecific, gender- or age-related findings to disease specific findings.
Cohort
Prospective
Clinical rating scale to measure disease severity and progression
Other interventionA 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.
Next-Gen Sequencing (NGS)
Diagnostic testWhole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
Change from baseline of Spastic Paraplegia Rating Scale (SPRS) total score at 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.
Click on the lead sponsor to view all of their trials.
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
