RecruitingNot ApplicableNCT03206190

The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4

Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)


Sponsor

University Hospital Tuebingen

Enrollment

200 participants

Start Date

Jul 1, 2018

Study Type

INTERVENTIONAL

Conditions

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

Min Age: 18 YearsMax Age: 70 Years

Inclusion Criteria3

  • 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 Criteria3

  • 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

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Interventions

OTHERSPRS Score and clinical signs

Patients will clinically characterized by using the SPRS Score and the inventory V3

BEHAVIORALCognition Testing using CANTAB

Patients will be tested using the CANTAB

DIAGNOSTIC_TESTLumbar Puncture and blood draw

Biomaterial will be collected (not obligate) to compare e.g. Nfl levels in serum and CSF

DIAGNOSTIC_TESTMRI

MRI will be used to reveal presymptomatic brain morphology changes (not obligate)

DIAGNOSTIC_TESTElectrophysiology

Electrophysiological tests will be used to characterize patients better.

DIAGNOSTIC_TESTTesting functional performance

By using the 3 minute walk, 5 stair-climb test, and 10m walking test we will try to identify and measure subclinical progression prior to disease onset

DIAGNOSTIC_TESTNon motor symptoms

By using a number of different tests we try to identify other non-motor symptoms which might manifest prior to disease onset.


Locations(1)

University Hospital Tübingen, Center for Neurology

Tübingen, Germany

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NCT03206190


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