Haematopoietic stem cell function in sickle cell disease

  • Research type

    Research Study

  • Full title

    Study of haematopoietic stem cell health and function in sickle cell disease and other haematological diseases

  • IRAS ID

    314005

  • Contact name

    Paul Telfer

  • Contact email

    p.telfer@nhs.net

  • Sponsor organisation

    Queen Mary University of London

  • Clinicaltrials.gov Identifier

    150586, EDGE

  • Duration of Study in the UK

    2 years, 11 months, 30 days

  • Research summary

    Sickle cell disease (SCD) is an inherited disorder of the oxygen carrying protein
    haemoglobin. It is the commonest inherited condition in England, and predominant
    affects the black ethnic minority population. SCD patients suffer a variety of
    complications, and have reduced life expectancy. Over 1000 people living with sickle
    cell disorders in East London and Essex and are managed at Bart’s Health and
    network hospitals. There are only a few treatment options at present, but good
    prospects for new drugs and curative approaches with gene therapy. Gene therapy
    would involve genetic correction of blood stem cells (haematopoietic stem cells, HSC's), but early studies show
    that HSC’s are under stress and not easily manipulated. Possible late effects of HCS
    damage include emergence of cancerous cells. It is therefore crucial that we obtain a
    better understanding of HSC health in SCD.
    We plan to undertake a programme of laboratory based studies to elucidate the nature of HSC deficits, and their causes and consequences. We wish to study HSC's from patients representing a range of age, disease severity and treatment history. We will also investigate the potential of different potential therapies to improve HSC function and health in vitro. These studies are anticipated to provide information on potential long-term risk to patients managed with standard care, as well as means of optimising gene therapy protocols and identifying new treatments.
    In order to undertake this work, we will be studying cells purified from blood and bone marrow from patients and controls. Bone marrow sampling is a safe procedure, but is uncomfortable. We will be taking samples from consented SCD patients and control subjects (age >5) managed at Barts Health NHS Trust who are undergoing planned surgery under general anaesthetic.

  • REC name

    London - Brighton & Sussex Research Ethics Committee

  • REC reference

    22/PR/0991

  • Date of REC Opinion

    19 Oct 2022

  • REC opinion

    Further Information Favourable Opinion