LION

  • Research type

    Research Study

  • Full title

    Leigh syndrome: Investigating Outcome measures & Natural history (LION) – a prospective, longitudinal cohort study

  • IRAS ID

    283535

  • Contact name

    Robert McFarland

  • Contact email

    robert.mcfarland@newcastle.ac.uk

  • Sponsor organisation

    Newcastle upon Tyne Hospitals NHS Foundation Trust

  • Clinicaltrials.gov Identifier

    N/A, N/A

  • Duration of Study in the UK

    0 years, 11 months, 30 days

  • Research summary

    Leigh syndrome (LS) is a severe and progressive neurodegenerative disorder that is the commonest presentation of paediatric mitochondrial disease. It is associated with developmental regression (loss of previously acquired cognitive and motor skills) and muscle, movement and balance problems.
    Onset of this very rare condition generally occurs in early childhood, however onset in adolescence and early adulthood has also been observed.

    There are currently no effective treatments for LS and it is often fatal within a few years of onset.

    Although understanding of the clinical signs and symptoms of LS has expanded rapidly since it was first described in the early 1950s, the natural history (progression of the condition over time) of LS remains unclear and may hold the key to development of effective treatment strategies.

    The aim of the study is to quantify the disease burden of LS and to describe the natural history of the condition. In addition, potential outcomes for future clinical trials and studies of potential treatments will be assessed. It is hoped that the information gained from this study will inform the design of future clinical trials and studies of treatments for LS.

  • REC name

    North East - Newcastle & North Tyneside 2 Research Ethics Committee

  • REC reference

    20/NE/0231

  • Date of REC Opinion

    28 Oct 2020

  • REC opinion

    Favourable Opinion