Disease progression and MRI changes associated with HSP

  • Research type

    Research Study

  • Full title

    A case controlled cohort study to understand the disease progression and MRI changes associated with hereditary spastic ataxia due to genetic mutations.

  • IRAS ID

    279110

  • Contact name

    Channa Hewamadduma

  • Contact email

    channa.hewamadduma2@nhs.net

  • Sponsor organisation

    Sheffield Teaching Hospitals NHS FT

  • Clinicaltrials.gov Identifier

    STH21277, STH number

  • Duration of Study in the UK

    3 years, 0 months, 1 days

  • Research summary

    Hereditary spastic ataxia (HSP) results in selective degeneration of corticospinal, cortico bulbar and cerebellar connections. These connections are made up of axons forming white matter.

    The study hypothesises that Diffusion Tensor Imaging (DTI) can detect pathways that deteriorate preferentially in Hereditary Spastic Paraparesis (HSP) and Hereditary Cerebellar Ataxia (HCA) compared to healthy controls. Correlating the DTI with clinical changes would help to identify a radiological biomarker to predict early clinical deterioration of these diseases.

    The study looks to recruit 30 patients. The patients would undergo be asked to complete cognitive and mood questionnaires, allow their clinical gait data to be used for research and undergo an MRI DTI.

    We hope that any clinical deterioration would be detected in MRI DTI over the two years, this would allow for better understanding of spastic ataxia specific changes and allow for the identification of a radiological biomarker to predict extra motor deterioration. This could be used to monitor the effect of therapeutic intervention that could delay disease progression.

  • REC name

    East of Scotland Research Ethics Service REC 1

  • REC reference

    20/ES/0024

  • Date of REC Opinion

    27 Apr 2020

  • REC opinion

    Further Information Favourable Opinion