The Aplastic Anaemia Trust, our Research and Clinical Advisory Panel, and Professor Ted Gordon Smith have published a report into the priorities for research and improving clinical care in rare bone marrow failure. 

You can read the whole thing online, order a printed copy, or read our plain- English summary below. 

A summary 

What is the report?

In Autumn 2024, The Aplastic Anaemia Trust embarked on a project to confer with experts - clinicians, researchers, and a patients - to find out what the biggest challenges and opportunities are in researching rare bone marrow failure conditions and improving patient care in the UK.

After conferring with experts on our Research and Clinical Advisory Panel (RCAP), we held a conference event in October 2024, bringing everyone together to discuss this question. The conference was kindly sponsored by the pharmaceutical companies: Alexion
AstraZeneca, Pfizer, Roche and Sobi. (The sponsors had no input into the content of the conference, or the report.)

After the conference, we spent many months drafting, meeting, and redrafting this report in collaboration with these expert clinicians. We also spoke to patients and families who were interested in this project and wanted to support this ambitious work, they have created Future of AA Research Funds to support the goals that the report identifies.

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What does the report say?

The report describes how limited treatment options are for patients living with aplastic anaemia. 

Outcomes for patients have improved significantly since the 1970s, but more treatment options are needed. 40% of patients do not respond to Immunosuppressant therapies and relapses are frequent. Stem cell transplant isn't suitable for everyone - and can only go forward when someone has a suitable donor. Meanwhile, advances in genetics have led to increased diagnosis of the even-rarer inherited forms of bone marrow failure (including Fanconi anaemia, dyskeratosis congenita, Shwachman Diamond Syndrome and Diamond-Blackfan Anaemia syndrome) which urgently need further research to develop treatments. 

The report highlights recent advances in understanding the genetics of aplastic anaemia, and the role of the immune system - areas where more research could tell us a lot more about how aplastic anaemia works.

The report breaks down nine areas of challenge and opportunity for aplastic anaemia:

1.We need more experts! 

Experts in rare bone marrow are retiring at a faster rate than they are being recruited. We need to work fast to inspire the next generation of researchers so that knowledge can be passed on, and progress can continue. 

The best way to do this would be to fund a programme of research fellowships, but we can also do more to inspire medical professionals earlier in their careers to focus on the world of rare bone marrow failure. 

2. Thinking beyond haematology

In the past, aplastic anaemia has always been considered a haematological (blood) condition, with research designed and delivered by expert haematologists. But some of the most exciting recent research has come from looking at the genetics of AA, and the immunology of the condition (investigating the connection with the immune system.)

Finding ways to collaborate with geneticists and immunologists, getting them interested in rare bone marrow failure, could lead to exciting discoveries. 

3. Genetic testing

When someone is diagnosed with aplastic anaemia, the guidelines say they should be given tests to rule out possible (though rare) genetic conditions which may have caused it. But it can be complicated for clinicians to order these tests, they might take a long time, and when they arrive, there are no clear guidelines for clinicians of what to do when if the tests are positive and treatment options are limited.

This needs to be improved, and patients across the UK should have access to the same tests and fast results. 

4. Care is different in different places in the UK

Depending on where a patient lives, they might have more difficulty being prescribed certain treatments or face longer waits for genetic test results. They may need to be treated by medical staff who have a low awareness of their condition or who have fewer opportunities for networking with experts. 

Every patient in the UK should have the same positive, high-quality experience of care irrespective of their age (no differences between paediatric and adult services), location (no postcode lottery),and the same access to treatments, including drugs.

This could be improved by building or improving networks between clinicians, and ensuring that every patient can quickly contact their specialist team when they need urgent advice. There are key issues that The Aplastic Anaemia Trust could campaign on including access to specific drugs, and establishing a national service specification for AA. 

5. Working together

There needs to be closer collaboration between different medical disciplines (especially to ensure care is more joined up for people with multidisciplinary conditions). Children's and adults' care services could work more closely together. AA is so rare that international collaboration is essential, and we could build new networks to help make this happen.

6. We need more data!

If we had a full picture of how many patients have aplastic anaemia in the UK, their treatment, and their long term outcomes
and side effects, this would really help clinicians and researchers to understand the condition and how it affects people's lives.  

A national registry or a biobank would help achieve this. 

7. What is aplastic anaemia and what causes it?

Traditionally aplastic anaemia has been considered either "acquired"/idiopathic (unknown cause) or genetic. But what we now suspect, from recent research, is that everyone with aplastic anaemia must have a genetic predisposition - something that makes them more likely than others to develop the condition. 

If we could do more research into the genetics of the condition and why the immune system is acting in the way that it does - one day we could spot the people who are predisposed to AA before they ever develop any symptoms, and develop treatments that stop their bone marrow from failing in the first place.

8. We need new treatments!

New treatments need to be trialled and developed. In particular, there is a real lack of treatment options for people with non-severe AA, older people with severe AA, and children who, for whatever reason, are not able to have a transplant. 

Because bone marrow transplants are continually improving, in five years we predict there will be far less chemotherapy needed for people who are having a transplant, even, for some patients, possibly no need for chemotherapy at all. More research to make this treatment less toxic in this way will make a big difference.

9. Raising awareness

Patients and families have told us how awareness of aplastic anaemia impacts their care and their wellbeing. The report recommends that The Aplastic Anaemia Trust continues awareness-raising, as this will directly support work to address the other challenges highlighted.

How can you help?

The Aplastic Anaemia Trust is small and we can only address these challenges by working with others. 

If you have an idea of how we can drive the aims in this report forward, you are interested in funding research or have a suggestion of someone we should be working with, please email our CEO, Joe Kirwin at [email protected]. 

Share the report! Send a link to this page to anyone you think should be taking notice - or email us and tell us to post them a copy. 

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Introducing: Future of AA Research Funds

The AAT is has launched a new type of fund. These are called Future of AA Research Funds, and they enable people who are committed to donating or fundraising over £10,000 annually to contribute specifically to the aims highlighted in this report.

This money can provide seed funding to encourage collaboration with larger funders and demonstrates the firm support of these priorities by the patients and families affected by rare bone marrow failure.

Future of AA Research Funds that have already been created by patients and families include:

• Buffy Younger Impact Fund

• Funding from the David & Rosemary Philips Trust

• Funding from Kavita Agarwal and Asit Gupta

If you or someone you know is interested in creating a Future of AA Research Fund, email our deputy CEO, Ellie Dawes for a chat at [email protected] or call her on 07956237939.