The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
Hereditary Spastic Paraplegia, Hereditary, Spastic Paraplegia, Autosomal Dominant
About this trial
This is an interventional diagnostic trial for Hereditary Spastic Paraplegia focused on measuring SPG4, presymptomatic, at risk, mutation carriers, biomarkers, longitudinal progression
Eligibility Criteria
Inclusion Criteria:
- 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)
Exclusion Criteria:
- No known SPAST-mutation within the family
- Manifest spastic gait (subclinical signs like increased deep tendon reflexes, positive Babinski sign are allowed)
- Participation in interventional trials
Sites / Locations
- University Hospital Tübingen, Center for NeurologyRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Experimental
Experimental
Experimental
Mutation carrier
Non-mutation carrier
Known-mutation carriers but presymptomatic
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.
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.
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).