Lucy C. Fox , Zoe K. McQuilten , Frank Firkin , Vanessa Fox , Xavier Badoux , Ashish Bajel , Pasquale Barbaro , Merrole F. Cole-Sinclair , Cecily Forsyth , John Gibson , Devendra K. Hiwase , Anna Johnston , Anthony Mills , Fernando Roncolato , Robyn Sutherland , Jeff Szer , Stephen B. Ting , Shahla Vilcassim , Lauren Young , Neil A. Waters , Erica M. Wood
{"title":"The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry","authors":"Lucy C. Fox , Zoe K. McQuilten , Frank Firkin , Vanessa Fox , Xavier Badoux , Ashish Bajel , Pasquale Barbaro , Merrole F. Cole-Sinclair , Cecily Forsyth , John Gibson , Devendra K. Hiwase , Anna Johnston , Anthony Mills , Fernando Roncolato , Robyn Sutherland , Jeff Szer , Stephen B. Ting , Shahla Vilcassim , Lauren Young , Neil A. Waters , Erica M. Wood","doi":"10.1016/j.beha.2023.101516","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":null,"pages":null},"PeriodicalIF":2.2000,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692623000774/pdfft?md5=43482c7a15f293fa7591c9b94fa27199&pid=1-s2.0-S1521692623000774-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Best Practice & Research Clinical Haematology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1521692623000774","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍:
Best Practice & Research Clinical Haematology publishes review articles integrating the results from the latest original research articles into practical, evidence-based review articles. These articles seek to address the key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach which focuses on the key questions to be addressed, clearly defining what is known and not known, covering the spectrum of clinical and laboratory haematological practice and research. Although most reviews are invited, the Editor welcomes suggestions from potential authors.