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Recruiting NCT03206190

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

No phase Interventional Hereditary Spastic Paraplegia Hereditary, Spastic Paraplegia, Autosomal Dominant

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: SPRS Score and clinical signs, Cognition Testing using CANTAB, Lumbar Puncture and blood draw, MRI.
Who it may be relevant to
Registry conditions: Hereditary Spastic Paraplegia, Hereditary, Spastic Paraplegia, Autosomal Dominant. Basic parameters: 18 years — 70 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Germany
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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

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.

Primary outcome measures

  • Identification of a change of recognizable signs or symptoms [Time frame: every two years, up to eight years]
Secondary outcome measures (12)
  • Subclinical progression (10m walking time) [Time frame: every two years, up to eight years]
  • Subclinical progression (5-stair climbing test time) [Time frame: every two years, up to eight years]
  • Subclinical progression (3 minute walking test (3MW)) [Time frame: every two years, up to eight years]
  • MRI (not obligate) - DTI [Time frame: every two years, up to eight years]
  • MRI (not obligate) - volumetry [Time frame: every two years, up to eight years]
  • Nfl [Time frame: every two years, up to eight years]
  • Non-motor symptoms (SPRS inventory V3) [Time frame: every two years, up to eight years]
  • Non-motor symptoms (quality of life) [Time frame: every two years, up to eight years]
  • Non-motor symptoms (fatigue) [Time frame: every two years, up to eight years]
  • Non-motor symptoms (pain) [Time frame: every two years, up to eight years]
  • Non-motor symptoms (depression) [Time frame: every two years, up to eight years]
  • Non-motor symptoms (restless-legs) [Time frame: every two years, up to eight years]

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
Non-randomized
Model
Parallel assignment
Masking
Triple blind
Primary purpose
Diagnostic

Study locations

Germany · 1 center
  • University Hospital Tübingen, Center for Neurology — Tübingen

Publications

  • Rattay TW, Volker M, Rautenberg M, Kessler C, Wurster I, Winter N, Haack TB, Lindig T, Hengel H, Synofzik M, Schule R, Martus P, Schols L. The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study. Brain. 2023 Mar 1;146(3):1093-1102. doi: 10.1093/brain/awac155. PMID 35472722

Identifiers

NCT: NCT03206190 · preSPG4

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗