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

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Cognition Testing using CANTAB: Patients will be tested using the CANTAB

Lumbar Puncture and blood draw: Biomaterial will be collected (not obligate) to compare e.g. Nfl levels in serum and CSF

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

Electrophysiology: Electrophysiological tests will be used to characterize patients better.

Testing 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

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

Study 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

Primary outcome measure(s)

• Identification of a change of recognizable signs or symptoms — every two years, up to eight years
  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)

Trial sites (1)

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