Projects
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Evaluating Multidisciplinary Bone Marrow Failure Syndrome Care – a prospective observational clinical trial offering comprehensive diagnostic genomic evaluation, multidisciplinary case review and multidisciplinary clinical care

2019-2021 (Grant): Evaluating Multidisciplinary Bone Marrow Failure Syndrome Care – a prospective observational clinical trial offering comprehensive diagnostic genomic evaluation, multidisciplinary case review and multidisciplinary clinical care. Dr Lucy Fox and Dr Piers Blombery, The University of Melbourne and Clinical Haematology, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital.

The Evaluating MultidisciplinaRy Bone maRrow fAilure CarE (EMBRACE) trial is a prospective observational clinical trial being undertaken by the combined Clinical Haematology Department at the Peter MacCallum Cancer Centre and The Royal Melbourne Hospital. The trail is open to patients from one month old, and offers molecularly-guided individualised care to Australian patients with a either a suspected Bone Marrow Failure Syndrome (BMFS) or an inherited predisposition to blood cancer, and expert management advice to clinicians referring these patents.

Patients enrolled on the trail will undergo molecular genetic testing for approximately 90 known current genes responsible for inherited BMFS and predisposition to haematological malignancy. Prior to the availability of genomic testing, establishing an accurate diagnosis was extraordinarily complicated, and only achieved in a proportion of cases with traditional testing. Patient stories of the ‘diagnostic odyssey’ (the time taken from the onset of symptoms to the receiving a definitive diagnosis) are absolutely heartbreaking – families who had no idea what was so desperately wrong with their child for years, enduring multiple hospital admissions, failure to thrive, and only a generic diagnosis of ‘ugly bone marrow’.

Access to genomic testing has revolutionised the ability to provide an accurate clinicogenomic diagnosis in a matter of weeks. The EMBRACE trail will ensure positive and lasting impact to Australian patients by providing a co-ordinated and efficient approach to case identification, diagnosis, multidisciplinary management, and genetic counselling and management to affected family members.

Read more about the project here

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Related Projects

The Australian Bone Marrow Failure Biobank.

2020-2023 (Grant): The Australian Bone Marrow Failure Biobank. Professor Melissa Southey, Biobanking Victoria, Monash University.

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Manage the Australian Aplastic Anaemia and other Bone Marrow Failure Syndrome Registry

2022-2024 (Grant): Manage the Australian Aplastic Anaemia and other Bone Marrow Failure Syndrome Registry. Professor Erica Wood, Monash University Department of Epidemiology and Preventative Medicine.

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Extension to The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry 

2019-2020 (Grant): Extension to The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (see above). Professor Erica Wood, Monash University Department of Epidemiology and Preventative Medicine. For further information, ...

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The RESELECT Trial – REscuing bone marrow function in patients with relapsed aplaStic anaEmia and/or bone marrow failure post aLlogeneic stEm Cell Transplantation.

2020-2023 (Program): The RESELECT Trial – REscuing bone marrow function in patients with relapsed aplaStic anaEmia and/or bone marrow failure post aLlogeneic stEm Cell Transplantation. PI – Professor David Ritchie.

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