Thanks to the more than 250 Australians with bone marrow failure syndromes who have registered with the Australian Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry (AAR), researchers are getting a better picture of these important rare conditions in Australia.
What are bone marrow failure syndromes?
A healthy bone marrow is vital to produce red blood cells (to carry oxygen), white blood cells (to fight infection) and platelets (to help form blood clots). Many factors affect blood cell production, but inherited, immune and other bone marrow failure syndromes (BMFS), including aplastic anaemia (AA), can lead to severe anaemia and risk of infection and bleeding. While these syndromes are rare, they are serious and may be life-threatening.
Making the correct diagnosis is essential to inform treatment options and counselling. The term AA usually refers to the acquired, immune-mediated disease, however, there are also a whole range of inherited BMFS (IBMFS) that can mimic AA. Both AA and IBMFS are rare conditions but are increasingly recognised as distinct entities, especially now with greater access to molecular diagnostic tests. It is also recognised that people with BMFS, both inherited and acquired, are at an increased risk of developing haematological cancers, and the level of risk varies according to the particular subtype of BMFS.
Depending on the specific diagnosis and an individual’s situation, treatment may include immunosuppression, haematopoietic stem cell transplantation, or other therapies. In the setting of very low blood counts, support with red blood cell and platelet transfusions, and antibiotics or growth factors to prevent infection, may be required. New treatment options are urgently needed to improve outcomes.
Why do we need a registry?
The National Strategic Action Plan for Rare Diseases acknowledges the key role that registries play in linking people living with a rare disease with clinical trials. Conducting clinical trials for rare conditions is difficult, and registries play very important roles in collecting and analysing data to understand the clinical journey, treatment provided, and long-term outcomes for people with rare diseases, including AA and BMFS. They can provide a national and international network within which to work together to share information, identify variation in clinical practice, and improve care delivery. Registries can also serve as important research infrastructure for clinical trials and biobanks, as described below.
What is the AAR?
The AAR is managed by Monash University as a collaboration with more than 40 participating centres around Australia, and is exploring the potential to expand to New Zealand sites. The registry is part-funded by Maddie Riewoldt’s Vision, a charitable foundation (click here for more information).
The aims of the AAR are to:
- Better define the incidence of AA and IBMFS in Australia
- Provide information on the range of diagnoses and of treatment strategies being employed
- Explore factors influencing clinical outcomes
- Better define optimal clinical management
- Inform and inspire future research in this area
The AAR is a member of the National Alliance of Rare Disease Registries. More than 250 participants, both adults and children, are already registered. Participation is voluntary, and the research is observational only – it does not change a person’s clinical care or treatment in any way. Participants can leave the registry at any time without affecting their treatment or care. Data are collected through routine clinical visits and do not require the collection of any extra non-clinical information; the data are held securely and only used for ethics committee-approved research.
More information is available at: aaregistry.org.au
The AAR is also conducting the DIAAMOND clinical trial for people with severe AA to find out if a new therapy increases blood cell production and reduces the need for blood transfusions and other supportive care, including hospital admissions. This study is funded by the Medical Research Future Fund (MRFF). More information is available here: aaregistry.org.au/clinical-trials
The AAR, in collaboration with Biobanking Victoria has also recently been awarded funding from Maddie Riewoldt’s Vision to support the Australian Marrow Failure Biobank, which will be a new national resource to support research in this important field.
Why get involved?
The benefit of participating in the AAR is to help researchers learn more about AA and IBMFS in Australia. Currently there are almost no Australian data on how many people are living with these conditions, their treatment, or clinical outcomes. Information from the registry is an invaluable resource to understand current practice and to support research to discover new treatment options which may improve outcomes.
The research may also enable improved management that could benefit some participants now, as well as future patients with AA and IBMFS.
Thanks to everyone who is already supporting the AAR!
If you’re living with AA or IBMFS and are interested in getting involved, please speak to your treating clinician. You can contact the registry directly by phone on 1800 811 326 or at firstname.lastname@example.org.