Clinical trial NCT03206190: The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
Official title: Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Hereditary Spastic Paraplegia
Hereditary, Spastic Paraplegia, Autosomal Dominant
Keywords: SPG4
presymptomatic
at risk
mutation carriers
biomarkers
longitudinal progression
Lead sponsor: University Hospital Tuebingen
Sponsor class: OTHER
First posted: 2017-07-02
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

Brief 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 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

Primary outcomes:
measure: Identification of a change of recognizable signs or symptoms
timeFrame: every two years, up to eight years
Secondary outcomes:
measure: Subclinical progression (10m walking time)
timeFrame: every two years, up to eight years
measure: Subclinical progression (5-stair climbing test time)
timeFrame: every two years, up to eight years
measure: Subclinical progression (3 minute walking test (3MW))
timeFrame: every two years, up to eight years
measure: MRI (not obligate) - DTI
timeFrame: every two years, up to eight years
measure: MRI (not obligate) - volumetry
timeFrame: every two years, up to eight years
measure: Nfl
timeFrame: every two years, up to eight years
measure: Non-motor symptoms (SPRS inventory V3)
timeFrame: every two years, up to eight years
measure: Non-motor symptoms (quality of life)
timeFrame: every two years, up to eight years
measure: Non-motor symptoms (fatigue)
timeFrame: every two years, up to eight years
measure: Non-motor symptoms (pain)
timeFrame: every two years, up to eight years
measure: Non-motor symptoms (depression)
timeFrame: every two years, up to eight years
measure: Non-motor symptoms (restless-legs)
timeFrame: every two years, up to eight years
measure: SPRS
timeFrame: every two years, up to eight years
measure: Cognition (CANTAB)
timeFrame: every two years, up to eight years
measure: Cognition (MoCA)
timeFrame: every two years, up to eight years
Other outcomes:
Locations:
city: Tübingen
country: Germany
facility: University Hospital Tübingen, Center for Neurology
Study officials:
affiliation: Head of Department
name: Ludger Schöls, Prof.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.