Working towards treatments for rare diseases
Today marks World Rare Disease Day, a patient-led global initiative working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
An individual rare disease may affect just a handful of people, however, cumulatively, more than 300 million people around the world live with a rare disease.
It can be challenging to attract research funding and capture the public’s imagination on rare diseases, and so treatments often lag behind those for better known diseases. But for those affected, the impacts can be massive – daily life must be planned around long-term, sometimes invasive treatment regimes; social productivity and personal opportunities are lost; and families grieve children and parents lost too soon.
This is why our Transfusion Research Unit manages several clinical registries and research projects that focus on rare blood disorders. People living with these blood disorders often require major support with blood transfusion.
Below we provide an update on our rare blood disease registries throughout 2021.
It is very difficult to secure funding for rare diseases research, especially for long-term projects such as these. If you’re in a position to donate to medical research, today we urge you to consider contributing to the ongoing support of a rare diseases project. Doing so will enable us to better utilize the data we capture, driving discoveries to improve treatments and quality of life.
You can find out more about philanthropic opportunities by contacting sphpm.transfusion@monash.edu.
Aplastic Anaemia and other bone marrow failure syndromes Registry (AAR)
Bone marrow is the ‘factory’ that produces all the red and white blood cells that carry oxygen around the body and fight infections, and platelets to help the blood clot when needed. Aplastic Anaemia (AA) is a life-threatening disorder whereby all blood cell types are produced in levels too low to maintain good health. It is one of a diverse group of bone marrow failure syndromes (BFMS), and it can be difficult to tell them apart without specialized testing. Sadly, many of these conditions have a low survival rate, and we want to change that.
The AAR collects standardized health information on Australians diagnosed with AA and other BFMS, enabling population studies, interventions and clinical trials that may help towards treatment or cure. The registry also supports the DIAAMOND study, which aims to determine if giving a drug called avatrombopag increases the rate of production of platelets, red blood cells and white blood cells, and reduces the need for blood transfusions and hospitalization.
It’s the first clinical trial of a new treatment in this space in Australia for over 30 years.
In 2021 the AAR expanded to include all bone marrow failure syndromes, and reached an important milestone with more than 250 participants recruited. The data on these rare conditions are will be invaluable to provide a picture of the health issues experienced by Australian patients.
Lymphoma and Related Diseases Registry (LaRDR)
Lymphomas are a family of blood cancers. Genomic technology has shown that there are myriad types, many of which are very rare. In spite of advances in diagnosis and treatment, little is known about the best treatment for some forms of lymphoma.
LaRDR serves as a tool to monitor the ongoing quality of care for lymphoma patients in Australia, identify factors that influence outcomes including survival and quality of life, and serve as a platform for clinical trials for treatments.
In 2021, LaRDR contributed to several major national and international research activities, including the International T-cell Lymphoma T-Cell 2.0 Registry, and the HoLISTIC and GLOW Hodgkin lymphoma collaboratives.
LaRDR celebrated its 5,000th participant during the year, an important milestone for the registry, and is expanding to its first sites in New Zealand.
Neonatal AlloImmune Thrombocytopenia Registry (NAIT)
NAIT is a rare but serious blood condition affecting expectant mothers and their babies. The mother’s immune system attacks the platelets of her unborn or newborn child, due to incompatibilities between the mother’s immune system and platelet antigens inherited from the father.
Affected babies have low platelet counts, leading to excessive bleeding and bruising. If a major bleed occurs in the baby’s brain, it may cause significant permanent injury or death.
The NAIT Registry captures health data on Australian mothers and babies affected by this condition, in a bid to better understand the underlying mechanisms, improve treatment and prevent occurrence.
In 2021, the NAIT registry embarked on an exciting new collaboration with researchers in several European countries and the USA, to understand international practice and outcomes for NAIT mothers and babies.
Thrombotic Microangiopathies Registry (TMA)
TMAs are conditions where platelets clump together in small blood vessels. This can lead to low numbers of circulating platelets and damage to small blood vessels in the kidney, brain and other organs. Some of these conditions are inherited, while others occur for unknown reasons, after viral illness, in pregnancy, or as side-effects of certain medications.
More than 350 participants with all types of TMAs have now been recruited to the registry, making this one of the largest datasets available on these important conditions, and a valuable resource for future research in this area.
Haemoglobinopathy Registry
Haemoglobinopathies are a diverse group of conditions where the production of haemoglobin – the molecule that carries oxygen in the blood – is impaired. Thalassaemia and sickle cell disease are two of the better known haemoglobinopathies. In some people, severe anaemia (low haemoglobin level) can lead to extreme tiredness, difficulty breathing, failure to thrive and the risk of long-term health complications like iron overload, diabetes and organ damage. People with sickle cell disease may also experience painful crises as the red cells change shape as they pass through the blood vessels and organs.
The impact of these conditions on quality of life can be extraordinary, and yet we don’t even have a clear picture of how many Australians are affected.
The Australian Haemoglobinopathy Registry seeks to better characterize and collect health data, to understand the impact of these conditions on Australians, and drive better diagnosis and treatment.
Nearly 800 participants have now joined the registry from 12 hospitals, providing vital new data for analysis. The registry is seeking to expand to additional sites across Australia.
Myeloma and Related Diseases Registry (MRDR)
Myeloma is a rare and incurable blood cancer of bone marrow plasma cells. The illness can affect many organs in the body, including the bones and kidneys. The burden of disease for patients and their families is substantial. New treatments are becoming available, but many of these are complex and high-cost.
The MRDR collects data on myeloma and related diseases to support best practice and improve care. As of 2021, more than 5,000 participants are contributing at nearly 60 hospitals across Australia and New Zealand. The project has been so successful that a sister registry has been established in several Asian countries: the Asia-Pacific Myeloma and Related Diseases Registry (APAC-MRDR), which is also administered by our team.