TY - JOUR
T1 - The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry
AU - Fox, Lucy C.
AU - McQuilten, Zoe K.
AU - Firkin, Frank
AU - Fox, Vanessa
AU - Badoux, Xavier
AU - Bajel, Ashish
AU - Barbaro, Pasquale
AU - Cole-Sinclair, Merrole F.
AU - Forsyth, Cecily
AU - Gibson, John
AU - Hiwase, Devendra K.
AU - Johnston, Anna
AU - Mills, Anthony
AU - Roncolato, Fernando
AU - Sutherland, Robyn
AU - Szer, Jeff
AU - Ting, Stephen B.
AU - Vilcassim, Shahla
AU - Young, Lauren
AU - Waters, Neil A.
AU - Wood, Erica M.
AU - on behalf of the Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR) Investigators
N1 - Funding Information:
ZKM and EMW are supported by Investigator Grants from Australia's National Health and Medical Research Council (NHMRC , # 1194811 and # 1177784 , respectively).
Funding Information:
The AAR has human research ethics committee (HREC) approval from Monash Health (AM/36494/MonH/13139A) under the national mutual acceptance (NMA) scheme. The NMA scheme permits the mutual acceptance of a single ethical review for multi-centre research studies conducted in publicly-funded health services. In 2020, all AAR participating hospital sites, except Western Australia, transferred their ethical review to NMA, greatly reducing the resources required to manage multiple individual HREC applications. The Western Australian Department of Health does not permit NMA for projects approved prior to 2017: these projects must remain under their approving HREC. The four Western Australian participating hospital sites are reviewed by a single Western Australian ethics committee. Local governance approval at all individual sites is still required to ensure institutional capacity and willingness to support AAR activity.The AAR is currently jointly supported by Monash University and Maddie Riewoldt's Vision, a not-for-profit organization established in 2016 in memory of a young woman who died from complications of aAA treatment. Maddie Riewoldt's Vision aims to fund research to improve treatments for patients with BMFS and to support patients and families living with these diseases. On receipt of additional funding, a modest per-patient payment to sites was commenced in 2023 to support completion of both initial registration and long-term outcome data for all patients enrolled in the AAR.The AAR aims to enrol all adult and paediatric Australian patients with BMFS. Prospective data commencing from the time of presentation is sought, and it is envisaged that all patients will have long term follow up in the AAR until the time of death (Fig. 1). All Australian hospitals known to care for patients with BMFS have been approached regarding participation. The AAR is promoted to patients and clinicians via the Maddie Riewoldt's Vision website and outreach, clinical networks, scientific presentations and educational events, and recruitment to registry-supported studies.The benefits of clinical registries are now well established for both research and clinical practice improvement. The BMFS represent a diverse group of individually rare diseases in which patients frequently have poor outcomes. Establishing a national BMFS registry to inform disease prevalence, clinical features and areas of need facilitates collaborative efforts towards novel therapies and other research opportunities. The AAR has supported and encouraged national collaboration in BMFS in Australia, and is a vital tool to engage in international efforts for improved strategies in management of these challenging diseases.The authors thank all patients participating in the AAR, the participating site staff for their efforts, and Maddie Riewoldt's Vision for funding support. ZKM and EMW are supported by Investigator Grants from Australia's National Health and Medical Research Council (NHMRC, #1194811 and #1177784, respectively).
Publisher Copyright:
© 2023 The Authors
PY - 2023/12
Y1 - 2023/12
N2 - The bone marrow failure syndromes (BMFS) are a diverse group of acquired and inherited diseases which may manifest in cytopenias, haematological malignancy and/or syndromic multisystem disease. Patients with BMFS frequently experience poor outcomes, and improved treatment strategies are needed. Collation of clinical characteristics and patient outcomes in a national disease-specific registry represents a powerful tool to identify areas of need and support clinical and research collaboration. Novel treatment strategies such as gene therapy, particularly in rare diseases, will depend on the ability to identify eligible patients alongside the molecular genetic features of their disease that may be amenable to novel therapy. The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR) aims to improve outcomes for all paediatric and adult patients with BMFS in Australia by describing the demographics, treatments (including supportive care) and outcomes, and serving as a resource for research and practice improvement.
AB - The bone marrow failure syndromes (BMFS) are a diverse group of acquired and inherited diseases which may manifest in cytopenias, haematological malignancy and/or syndromic multisystem disease. Patients with BMFS frequently experience poor outcomes, and improved treatment strategies are needed. Collation of clinical characteristics and patient outcomes in a national disease-specific registry represents a powerful tool to identify areas of need and support clinical and research collaboration. Novel treatment strategies such as gene therapy, particularly in rare diseases, will depend on the ability to identify eligible patients alongside the molecular genetic features of their disease that may be amenable to novel therapy. The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR) aims to improve outcomes for all paediatric and adult patients with BMFS in Australia by describing the demographics, treatments (including supportive care) and outcomes, and serving as a resource for research and practice improvement.
KW - Aplastic anaemia
KW - Inherited bone marrow failure
KW - Inherited predisposition to haematological malignancy
KW - Rare disease registry
UR - http://www.scopus.com/inward/record.url?scp=85175468029&partnerID=8YFLogxK
U2 - 10.1016/j.beha.2023.101516
DO - 10.1016/j.beha.2023.101516
M3 - Review Article
C2 - 38092475
AN - SCOPUS:85175468029
SN - 1521-6926
VL - 36
JO - Best Practice & Research: Clinical Haematology
JF - Best Practice & Research: Clinical Haematology
IS - 4
M1 - 101516
ER -