LOH in HSCT
Research type
Research Study
Full title
Detection and characterisation of HLA somatic mutations and allele loss in hematopoietic cell transplant recipients
IRAS ID
342905
Contact name
Luke Foster
Contact email
Sponsor organisation
NHSBT
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
0 years, 6 months, 29 days
Research summary
Patients who are potential candidates for a stem cell transplant can present with rapidly progressing disease whereby the window for transplantation may be narrow. As such, the clinical urgency of transplantation is an important factor in the management of patients referred for transplant work-up. Rapid and accurate tissue typing is therefore essential. However, mutations within disease-derived cells can result in the appearance of apparent novel or rare alleles, or loss of heterozygosity (LOH), whereby an allele or number of alleles are unable to be detected upon tissue typing. Alleles are different forms of a gene where you usually inherit one copy of from each parent - having 2 copies of a gene (one from each parent) makes you heterozygous and helps make up your own unique physiology. However if someone experiences LOH, it means that they have lost one copy of an allele or gene variation. This can affect tissue typing results and thus the search for and selection of a suitable donor. There is likely to be an enhanced clinical urgency if this phenomenon is identified during the work-up of a selected donor. This project aims to detect the nature of these mutations and impact on tissue typing as well as potential outcome of transplant.
REC name
London - Central Research Ethics Committee
REC reference
24/PR/0819
Date of REC Opinion
16 Jul 2024
REC opinion
Favourable Opinion