What is the research focus of this project?

The purpose of this research is to look for new faults in the DNA in genes that patients with aplastic anaemia (AA) may acquire at some point later in life, before and following treatment of their AA. The researchers will test for mutations on a bone marrow sample taken at diagnosis, then on further samples at 6 months and 2 years. They will then correlate the mutations with haematological response and later progression to myelodisplastic syndrome (MDS) or acute myeloid leukaemia (AML).

Connection with an international trial

This important work will be done on the 200 patients who are being recruited to the current RACE clinical trial running across many centres in Europe. This is a study comparing treatment with ATG, ciclosporin with or without eltrombopag

Why is this study so important?

It is already known that 20% of patients with aplastic anaemia will at some point during the course of their disease develop an acquired mutation similar to those seen in the majority of MDS patients. 

Researchers will follow the mutations at 6 months and 2 years after treatment, to determine whether they persist or disappear. They will be able to determine whether any mutation has any effect on the chance of responding to AA treatment, and whether they may be an early warning sign for a later risk of MDS or AML. This would alert haematologists to a possible change in treatment for an individual patient. For example, it may trigger an early consideration for a bone marrow transplant, before the development of MDS or acute leukaemia, with the aim of achieving long-term cure for more patients with aplastic anaemia.

Early detection of those patients at high risk of developing MDS/AML is of major importance, so that early bone marrow transplant can be planned, prior to developing MDS/AML, as an aim for a long-term cure for the disease.

The assessment process

An independent Research Advisory Panel comprising of top haematologists from across the UK and an aplastic anaemia survivor was formed to assess proposals. 

According to a panel member:

This is a very strong academic group with a track record of excellent research in aplastic anaemia. Asking important and pertinent research question with a precise and achievable plan to accomplish it. This research proposal addresses an important issue and its outcome is likely to change current clinical practice.