Australian Marrow Failure Biobank
Monash University
200 participants
Apr 7, 2025
Observational
Conditions
Summary
Approximately 5 million people are affected by bone marrow failure syndromes (BMFS) worldwide each year, but individually many of the BMFS are rare. In Australia there are 160 new diagnoses each year, of which 50% do not survive. The rarity of these conditions and the absence of coordinated data and sample collection present barriers to research into biology and optimal treatment of BMFS. In Australia, Maddie Riewoldt's Vision (MRV) has supported a national comprehensive clinical data set on newly diagnosed patients with BMFS through strategic funding of the Aplastic Anaemia Registry and Other Bone Marrow Failure Syndromes Registry (AAR). MRV seeks to build on this initiative by establishing a matched research sample set that will allow new research questions to be asked, provide a feasible and ready-to-go sample set that will support BMFS research. The purpose of the AMFB is to establish a national repository of samples from patients with BMFS to serve as a community resource for clinicians and researchers. Promote nationally consistent, comprehensive diagnostic (including molecular) testing for patients with BMFS. It is hoped that the research from this biobank will provide valuable information to improve the diagnosis, treatment, or care of people with BMFS.
Eligibility
Inclusion Criteria5
- For for individuals with BMFS:
- Established diagnosis of a BMFS or newly presenting diagnosis of BMFS
- Participant or substitute decision maker is willing and able to give informed consent
- Participant or substitute decision-maker is willing to participate in the Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry (AAR)
- Due to the inherited nature of these conditions, blood relatives of a person with an established diagnosis of an inherited BMFS or newly presenting diagnosis of an inherited BMFS are also invited to participate in the AMFB where indicated.
Exclusion Criteria2
- For for individuals with BMFS:
- A verified medical diagnosis other than a BMFS (e.g. following chemotherapy or B12 deficiency)
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Interventions
The biobank is established to create repository of biological specimens from patients with acquired or inherited bone marrow failure syndromes including germline predisposition to haematological malignancy. Samples may be linked to patient records in the previously established Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry (AAR), which houses a comprehensive clinical data set. Patients with bone marrow failure syndrome will be asked to provide the following samples: BASELINE: 1x blood sample, 1x bone marrow aspirate sample and any one of the following germline samples: hair bulb, oral collection, nail clippings, skin fibroblast. ANNUAL: 1x blood sample. FORTUITOUS: 1x bone marrow aspirate sample for each bone marrow biopsy the patient undergoes. Bespoke sample collection of valuable biological samples which are not included above are able to be sent to the biobank with prior ethics approval and discussion with the AMFB team to ensure that appropriate protocols exist to permit storage. Every effort will be made for these research samples to be collected during routine visits and procedures. Patients will continue with annual collections unless they decide to withdraw. Additionally, consented asymptomatic blood relatives of eligible patients who participate in the AMFB will have a singular baseline peripheral blood sample collected.
Locations(5)
View Full Details on ANZCTR
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ACTRN12623000424606