Investigating bone marrow Stem Cells in Sickle Cell Disease
Research type
Research Study
Full title
Towards genome editing of bone marrow haemopoietic stem cells in individuals with sickle cell disease
IRAS ID
215683
Contact name
James Davies
Contact email
Sponsor organisation
Oxford University Hospitals NHS Foundation Trust
Clinicaltrials.gov Identifier
17/SC/0111, Investigating bone marrow stem cells in sickle cell disease
Duration of Study in the UK
10 years, 11 months, 30 days
Research summary
Sickle cell disease (SCD) is one of the most common inherited single gene disorders. It leads to progressive organ damage with significantly reduced quality of life and life expectancy. SCD could be cured by repairing the single gene disorder (within the haemoglobin gene using a process called genome editing) in the individual's own blood stem/progenitor cells and then transplanting these corrected stem cells into the same individual. Such gene correction therapy offers the greatest potential benefit to young SCD adults, when the risk of life-threatening complications starts to increase and before irreversible major end-organ damage.
We will invite adult patients to this study at the Oxford University Hospitals NHS Trust to consent to i)complete a questionnaire on their reasons for taking part or not and for access to medical records, and/or ii) have physical examination & give a blood sample, and/or iii) give a bone marrow sample.
We will also use existing stored consented SCD bone marrows.
All data and will be linked anonymised before being sent to the research lab for analysis. We aim to combine our expertise to stringently define
i) abnormalities in the human bone marrow derived blood stem cells and their progeny, particularly their frequency, function and gene profile in bone marrow, in non-transfused SCD individuals; and
ii) the effect of chronic transfusion/red cell exchange in restoring the normal structure/function of the stem/progenitor cell compartment in SCD individuals.This is a novel, unique and timely proposal, with SCD individuals being involved in study design at the earliest stage. The benefits of the study include i) improving our understanding of how SCD affects blood production in the bone marrow, and ii) importantly collecting data via questionnaires from SCD individuals on reasons for participating or not in the study, as a crucial step to informing trial design for future clinical trials in curing this disease.
REC name
South Central - Oxford B Research Ethics Committee
REC reference
17/SC/0111
Date of REC Opinion
16 May 2017
REC opinion
Further Information Favourable Opinion