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

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

Conditions

• Hereditary Spastic Paraplegia
• Hereditary, Spastic Paraplegia, Autosomal Dominant

Interventions

OTHER

SPRS Score and clinical signs

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

BEHAVIORAL

Cognition Testing using CANTAB

Patients will be tested using the CANTAB

DIAGNOSTIC_TEST

Lumbar Puncture and blood draw

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

DIAGNOSTIC_TEST

MRI

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

DIAGNOSTIC_TEST

Electrophysiology

Electrophysiological tests will be used to characterize patients better.

DIAGNOSTIC_TEST

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

DIAGNOSTIC_TEST

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.

Sponsors & Collaborators

• University Hospital Tuebingen

  lead OTHER

Principal Investigators

• Ludger Schöls, Prof. · Head of Department

Study Design

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

TRIPLE

Model

PARALLEL

Eligibility

Min Age

18 Years

Max Age

70 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2018-07-01

Primary Completion

2029-12-31

Completion

2031-12-31

Countries

• Germany

Study Locations