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

NCT ID: NCT03206190

Last Updated: 2022-08-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

200 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-07-01

Study Completion Date

2031-12-31

Brief Summary

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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

Detailed Description

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Conditions

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Hereditary Spastic Paraplegia Hereditary, Spastic Paraplegia, Autosomal Dominant

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

TRIPLE

Participants Caregivers Investigators
Two Arms are blinded (mutation carriers vs. non mutation carriers) the third arm is an open-arm for presymptomatic tested mutation carriers

Study Groups

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Mutation carrier

The participants will be tested genetically if they carry a disease causing mutation or not. Depending on their genetic test result they will at the end of the study divided into two groups. The clinician will be blinded throughout the entire study to the genetic results.

Group Type EXPERIMENTAL

SPRS Score and clinical signs

Intervention Type OTHER

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

Cognition Testing using CANTAB

Intervention Type BEHAVIORAL

Patients will be tested using the CANTAB

Lumbar Puncture and blood draw

Intervention Type DIAGNOSTIC_TEST

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

MRI

Intervention Type DIAGNOSTIC_TEST

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

Electrophysiology

Intervention Type DIAGNOSTIC_TEST

Electrophysiological tests will be used to characterize patients better.

Testing functional performance

Intervention Type DIAGNOSTIC_TEST

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

Intervention Type DIAGNOSTIC_TEST

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

Non-mutation carrier

The participants will be tested genetically if they carry a disease causing mutation or not. Depending on their genetic test result they will at the end of the study divided into two groups. The clinician will be blinded throughout the entire study to the genetic results.

Group Type EXPERIMENTAL

SPRS Score and clinical signs

Intervention Type OTHER

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

Cognition Testing using CANTAB

Intervention Type BEHAVIORAL

Patients will be tested using the CANTAB

Lumbar Puncture and blood draw

Intervention Type DIAGNOSTIC_TEST

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

MRI

Intervention Type DIAGNOSTIC_TEST

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

Electrophysiology

Intervention Type DIAGNOSTIC_TEST

Electrophysiological tests will be used to characterize patients better.

Testing functional performance

Intervention Type DIAGNOSTIC_TEST

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

Intervention Type DIAGNOSTIC_TEST

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

Known-mutation carriers but presymptomatic

In a third arm (open arm) we will also include positive predictive tested participants which know that they are carrying a known mutation but are at inclusion into the study asymptomatic (according to the inclusion / exclusion criteria).

Group Type EXPERIMENTAL

SPRS Score and clinical signs

Intervention Type OTHER

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

Cognition Testing using CANTAB

Intervention Type BEHAVIORAL

Patients will be tested using the CANTAB

Lumbar Puncture and blood draw

Intervention Type DIAGNOSTIC_TEST

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

MRI

Intervention Type DIAGNOSTIC_TEST

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

Electrophysiology

Intervention Type DIAGNOSTIC_TEST

Electrophysiological tests will be used to characterize patients better.

Testing functional performance

Intervention Type DIAGNOSTIC_TEST

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

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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SPRS Score and clinical signs

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

Intervention Type OTHER

Cognition Testing using CANTAB

Patients will be tested using the CANTAB

Intervention Type BEHAVIORAL

Lumbar Puncture and blood draw

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

Intervention Type DIAGNOSTIC_TEST

MRI

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

Intervention Type DIAGNOSTIC_TEST

Electrophysiology

Electrophysiological tests will be used to characterize patients better.

Intervention Type 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

Intervention Type 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.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital Tuebingen

OTHER

Sponsor Role lead

Responsible Party

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Prof. Dr. Ludger Schöls

Prinicipal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Ludger Schöls, Prof.

Role: PRINCIPAL_INVESTIGATOR

Head of Department

Locations

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University Hospital Tübingen, Center for Neurology

Tübingen, , Germany

Site Status RECRUITING

Countries

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Germany

Central Contacts

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Ludger Schöls, Prof.

Role: CONTACT

+49 7071 / 29 ext. 82057

Facility Contacts

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Ludger Schöls, MD

Role: primary

+49 7071 29 82057

References

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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.

Reference Type RESULT
PMID: 35472722 (View on PubMed)

Other Identifiers

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preSPG4

Identifier Type: -

Identifier Source: org_study_id

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