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

University Hospital Tuebingen

Status: Enrolling

Conditions: Hereditary, Spastic Paraplegia, Autosomal Dominant; Hereditary Spastic Paraplegia

Treatments: Behavioral: Cognition Testing using CANTAB; Diagnostic Test: Non motor symptoms; Diagnostic Test: Lumbar Puncture and blood draw; Diagnostic Test: Electrophysiology; Diagnostic Test: MRI; Diagnostic Test: Testing functional performance; Other: SPRS Score and clinical signs

Study type: Interventional

Funder types: Other

Identifiers

NCT03206190

preSPG4

Details and patient eligibility

About

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

Enrollment: 200 estimated patients

Sex: All

Ages: 18 to 70 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: Triple Blind

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200 participants in 3 patient groups

Mutation carrier

Experimental group

Description:

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.

Treatment:

Diagnostic Test: Non motor symptoms

Diagnostic Test: Lumbar Puncture and blood draw

Behavioral: Cognition Testing using CANTAB

Diagnostic Test: Testing functional performance

Other: SPRS Score and clinical signs

Diagnostic Test: Electrophysiology

Diagnostic Test: MRI

Non-mutation carrier

Experimental group

Description:

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.

Treatment:

Diagnostic Test: Non motor symptoms

Diagnostic Test: Lumbar Puncture and blood draw

Behavioral: Cognition Testing using CANTAB

Diagnostic Test: Testing functional performance

Other: SPRS Score and clinical signs

Diagnostic Test: Electrophysiology

Diagnostic Test: MRI

Known-mutation carriers but presymptomatic

Experimental group

Description:

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).

Treatment:

Diagnostic Test: Non motor symptoms

Diagnostic Test: Lumbar Puncture and blood draw

Behavioral: Cognition Testing using CANTAB

Diagnostic Test: Testing functional performance

Other: SPRS Score and clinical signs

Diagnostic Test: Electrophysiology

Diagnostic Test: MRI