The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-70
SponsorUniversity Hospital Tuebingen
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
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)
Disqualifiers
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
Trial design
Design model
Parallel
Treatments tested in this trial
SPRS Score and clinical signs
Other interventionPatients will clinically characterized by using the SPRS Score and the inventory V3
Cognition Testing using CANTAB
BehavioralPatients will be tested using the CANTAB
Lumbar Puncture and blood draw
Diagnostic testBiomaterial will be collected (not obligate) to compare e.g. Nfl levels in serum and CSF
MRI
Diagnostic testMRI will be used to reveal presymptomatic brain morphology changes (not obligate)
Electrophysiology
Diagnostic testElectrophysiological tests will be used to characterize patients better.
Testing functional performance
Diagnostic testBy 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
Non motor symptoms
Diagnostic testBy using a number of different tests we try to identify other non-motor symptoms which might manifest prior to disease onset.
Treatment groups
200 Participants
are divided into 3 treatment groupsGroup A: Mutation carrierExperimental treatment 7 interventions
Group B: Non-mutation carrierExperimental treatment 7 interventions
Group C: Known-mutation carriers but presymptomaticExperimental treatment 7 interventions
Trial outcomes
Primary outcomes
1
Identification of a change of recognizable signs or symptoms
Identification of recognizable signs or symptoms and their time course prior to disease-onset defined by the presence of a spastic gait and at least one of three additional features: 1. manifest spasticity in the clinical examination (Ashworth Scale \>0) 2. positive Babinski sign 3. pyramidal pattern of muscle weakness (e.g. hip abduction or foot elevation preferentially involved)
Time frame
every two years, up to eight yearsSecondary outcomes
1
Subclinical progression (10m walking time)
To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation.
Time frame
every two years, up to eight years2
Subclinical progression (5-stair climbing test time)
To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation.
Time frame
every two years, up to eight years3
Subclinical progression (3 minute walking test (3MW))
To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation.
Time frame
every two years, up to eight years4
MRI (not obligate) - DTI
To reveal alterations in brain morphology with magnetic resonance im-aging (MRI) in presymptomatic mutation carriers by measuring diffusion tensor imaging (DTI).
Time frame
every two years, up to eight yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov