Biomarkers for FRDA

• Research type

  Research Study

• Full title

  Tracking progression in Friedreich's ataxia (FRDA) to establish biomarkers for clinical trials.

• IRAS ID

  177832

• Contact name

  Paola Giunti

• Contact email

  p.giunti@ucl.ac.uk

• Sponsor organisation

  UCL

• Duration of Study in the UK

  2 years, 0 months, 1 days

• Research summary

  Friedreich's ataxia is a devastating neurodegenerative disorder causing loss of balance leading to wheelchair dependence, visual loss, heart failure, deafness and diabetes.

  This study aims to investigate new ways of measuring the progress of Friedreich's ataxia by using innovative, highly sensitive, quantitative Magnetic Resonance Imaging (MRI) measures in the brain and spinal cord, combined with high resolution imaging of the retina.

  Novel bio-markers are crucial to help:
  i) stratification of patients (important for trial planning and patient identification)
  ii) measurement of target engagement of a drug, to confirm therapeutic activity in vivo
  iii) prediction of therapeutic response in the early stages of a clinical trial

  To assess the sensitivity and specificity of the novel bio-markers we will cross-validate the MRI and retinal imaging data with known bio-markers, including clinical rating scales (SARA and ICARS), GAA repeat sizes, and Frataxin protein levels (using an assay which has been developed by our Industry partner Pfizer).

  This is a longitudinal study focusing on monitoring patients at baseline, 11 months and 22 months.

  We propose to enrol a group of up to 70 molecularly confirmed FRDA patients from the three specialist ataxia centres (London, Oxford, Newcastle). High resolution imaging of the retina will be carried out on up to 70 patients across three sites, London, Oxford and Newcastle, whilst the MRI scans will be carried out up to 24 patients and 6 control subjects across 2 sites, London and Newcastle. Frataxin levels will be analysed for all patients by Imperial College at baseline, point 1 and point 2.

  Inclusion Criteria
  1. Patients with a molecular genetic diagnosis of FRDA, consisting of a GAA-repeat expansion on both alleles of the FXN gene
  2. FRDA patients with disease duration <20 years

  This will be the largest study of this kind to date and should assist in clinical trial development.

• REC name

  London - Camden & Kings Cross Research Ethics Committee

• REC reference

  16/LO/0922

• Date of REC Opinion

  7 Jun 2016

• REC opinion

  Further Information Favourable Opinion