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NCT Number: NCT03206190

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

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

Recruiting

Interested in participating?

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Key information

Conditions

Hereditary Spastic Paraplegia Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Hereditary, Spastic Paraplegia, Autosomal Dominant Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies Spastic Paraplegia, Hereditary

Age range

18 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University Hospital Tübingen, Center for Neurology

Tübingen, 72076, Germany

Location status: Recruiting

Location contact

Ludger Schöls, MD

CONTACT

[email protected]

+49 7071 29 82057

Tim W. Rattay, MD

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

SPRS Score and clinical signs

Other

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

Cognition Testing using CANTAB

Behavioral

Patients will be tested using the CANTAB

Lumbar Puncture and blood draw

Diagnostic Test

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

MRI

Diagnostic Test

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

Electrophysiology

Diagnostic Test

Electrophysiological tests will be used to characterize patients better.

Testing functional performance

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

Diagnostic Test

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

Primary outcomes

  1. Identification of a change of recognizable signs or symptoms

    Time frame: every two years, up to eight years

    Identification of recognizable signs or symptoms and their time course prior to disease-onset defined by the presence of a spastic gait and at least one of three additional features:

    • manifest spasticity in the clinical examination (Ashworth Scale >0)
    • positive Babinski sign
    • pyramidal pattern of muscle weakness (e.g. hip abduction or foot elevation preferentially involved)

Secondary outcomes

  1. Subclinical progression (10m walking time)

    Time frame: every two years, up to eight years

    To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation.

  2. Subclinical progression (5-stair climbing test time)

    Time frame: every two years, up to eight years

    To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation.

  3. Subclinical progression (3 minute walking test (3MW))

    Time frame: every two years, up to eight years

    To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation.

  4. MRI (not obligate) - DTI

    Time frame: every two years, up to eight years

    To reveal alterations in brain morphology with magnetic resonance im-aging (MRI) in presymptomatic mutation carriers by measuring diffusion tensor imaging (DTI).

  5. MRI (not obligate) - volumetry

    Time frame: every two years, up to eight years

    To reveal alterations in brain morphology with magnetic resonance im-aging (MRI) in presymptomatic mutation carriers by measuring brain volumetry.

  6. Nfl

    Time frame: every two years, up to eight years

    To compare Nfl levels in serum (and cerebrospinal fluid (CSF) - not obligate) in mutation carriers and non-carriers.

  7. Non-motor symptoms (SPRS inventory V3)

    Time frame: every two years, up to eight years

    To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the SPRS inventory V3.

  8. Non-motor symptoms (quality of life)

    Time frame: every two years, up to eight years

    To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the EQ-5D.

  9. Non-motor symptoms (fatigue)

    Time frame: every two years, up to eight years

    To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the MFI.

  10. Non-motor symptoms (pain)

    Time frame: every two years, up to eight years

    To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the Brief Pain Inventory.

  11. Non-motor symptoms (depression)

    Time frame: every two years, up to eight years

    To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the Becks Depression Inventory (BDI).

  12. Non-motor symptoms (restless-legs)

    Time frame: every two years, up to eight years

    To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the restless-legs diagnostic criteria questions.

  13. SPRS

    Time frame: every two years, up to eight years

    To determine the sensitivity of the Spastic Paraplegia Rating Scale (SPRS) to detect the manifestation of disease onset as defined above.

  14. Cognition (CANTAB)

    Time frame: every two years, up to eight years

    To compare cognitive performance by using the CANTAB battery in mutation and non-mutation carriers

  15. Cognition (MoCA)

    Time frame: every two years, up to eight years

    To compare cognitive performance by using the Montreal Cognitive Assessment (MoCA) in mutation and non-mutation carriers

Study contacts

Contact information is provided by the study sponsor or research team.

Ludger Schöls, Prof.

CONTACT

[email protected]

+49 7071 / 29 ext. 82057

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Official study title

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

Important dates

Study start
2018
Primary completion
2029
Study completion
2031
First posted
Jul 2, 2017
Registry last updated
Aug 23, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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