Effect of hypoxia on FRDA patients

  • Research type

    Research Study

  • Full title

    A preliminary investigation into the impacts of normobaric hypoxia on neuromuscular and cardiac function in Friedreich’s Ataxia.

  • IRAS ID

    229069

  • Contact name

    Hugh Montgomery

  • Contact email

    h.montgomery@ucl.ac.uk

  • Sponsor organisation

    University College London

  • Clinicaltrials.gov Identifier

    Z6364106/2019/10/117, UCL Data Protection

  • Duration of Study in the UK

    0 years, 4 months, 1 days

  • Research summary

    In this open-label pilot, we shall explore the effects of controlled hypoxia on individuals diagnosed with FRDA. Using established, safe protocols, our participants will be exposed to progressively lower levels of oxygen in a normobaric hypoxic chamber over the course of five days. Subjects will be studied in the week prior to, and as soon as feasible after, hypoxic exposure. If an effect of hypoxic exposure is identified, we may repeat the studies at 3 months to identify a washout effect. The investigations have been chosen with the primary aim of demonstrating a beneficial effect on mitochondrial function in vivo in clinically affected tissues, with exploratory investigations (i) seeking a signal for an associated clinically relevant improvement in neuromuscular function and metabolic profile (urine and blood) and (ii) assessing related changes in in vitro measures of mitochondrial function. This is the first such trial of hypoxia in FRDA patients which could, should our data prove positive, pave the way to the first effective disease-modifying therapy this incurable condition.

  • REC name

    London - Westminster Research Ethics Committee

  • REC reference

    20/LO/0227

  • Date of REC Opinion

    18 May 2020

  • REC opinion

    Further Information Favourable Opinion