In vitro immunogenicity assessments using patient samples
Research type
Research Study
Full title
Study of adaptive immune responses to TP53-CH and other myeloid mutation targets in Shwachman-Diamond Syndrome (SDS) patients and other related bone marrow disorders
IRAS ID
371287
Contact name
Caroline Haegeman
Contact email
Sponsor organisation
Athernal Bio Limited
Duration of Study in the UK
5 years, 11 months, 31 days
Research summary
Study of adaptive immune responses to TP53-CH and other myeloid mutation targets in Shwachman-Diamond Syndrome (SDS) patients and other related bone marrow disorders
Patients with SDS are at high risk of developing mutations in their blood stem cells that leads to an increased lifetime risk of developing AML from these mutated stem cells. These harmful mutations are known to primarily be within the TP53 gene. Our long-term goal is a safe, preventive immunotherapy that helps the body’s own immune system recognize and control these cells carrying TP53 mutations before they cause harm.
Athernal Bio will isolate PBMCs from these blood samples and culture them in vitro for up to 14 days for the initial expansion phase, with one or more rounds of restimulation that may extend total culture time to up to 6 weeks.
The upstream NHS clinical service via CBSB provides confirmatory genomic data on the patients’ SDS germline diagnosis and somatic mutation panel. In principle Athernal Bio receives but does not generate this data, in case of missing critical data Athernal may test at a CRO for targetted myeloid panel and SBDS germline in case this has not been done by CBSB, if this is planned an amendment will be submitted.REC name
London - Surrey Borders Research Ethics Committee
REC reference
26/PR/0717
Date of REC Opinion
12 Jun 2026
REC opinion
Favourable Opinion