Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)
Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test, Other, Behavioral
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY
Study goals 1. Prospective longitudinal data on progression in the natural course of SPG4 in presymptomatic mutation carriers prior to clinical disease onset and in early stages of disease 2. Biomarkers providing objective measures of disease activity
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 70
Healthy Volunteers: f
View:
• First degree relatives (parents, offspring, and sibs) of SPG4 patients or symptomatic individuals with known SPAST mutation
• Age 18 to 70 years
• Written, informed consent (patient)
Locations
Other Locations
Germany
University Hospital Tübingen, Center for Neurology
RECRUITING
Tübingen
Contact Information
Primary
Ludger Schöls, Prof.
ludger.schoels@uni-tuebingen.de
+49 7071 / 29
Time Frame
Start Date: 2018-07-01
Estimated Completion Date: 2031-12
Participants
Target number of participants: 200
Treatments
Experimental: Mutation carrier
The participants will be tested genetically if they carry a disease causing mutation or not. Depending on their genetic test result they will at the end of the study divided into two groups. The clinician will be blinded throughout the entire study to the genetic results.
Experimental: Non-mutation carrier
The participants will be tested genetically if they carry a disease causing mutation or not. Depending on their genetic test result they will at the end of the study divided into two groups. The clinician will be blinded throughout the entire study to the genetic results.
Experimental: Known-mutation carriers but presymptomatic
In a third arm (open arm) we will also include positive predictive tested participants which know that they are carrying a known mutation but are at inclusion into the study asymptomatic (according to the inclusion / exclusion criteria).
Related Therapeutic Areas
Sponsors
Leads: University Hospital Tuebingen