The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry

Fox, LC; McQuilten, ZK; Firkin, F; Fox, V; Badoux, X; Bajel, A; Barbaro, P; Cole-Sinclair, MF; Forsyth, C; Gibson, J; Hiwase, DK; Johnston, A; Mills, A; Roncolato, F; Sutherland, R; Szer, J; Ting, SB; Vilcassim, S; Young, L; Waters, NA; Wood, EM; Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry Investigators

Author(s): Fox, LC; McQuilten, ZK; Firkin, F; Fox, V; Badoux, X; Bajel, A; Barbaro, P; Cole-Sinclair, MF; Forsyth, C; Gibson, J; Hiwase, DK; Johnston, A; Mills, A; Roncolato, F; Sutherland, R; Szer, J; Ting, SB; Vilcassim, S; Young, L; Waters, NA; Wood, EM; Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry Investigators;
Details: Publication Year 2023-12,Volume 36,Issue #4,Page 101516
Journal Title: Best Practice & Research Clinical Haematology
Publication Type: Review
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.
Publisher: Elsevier
Keywords: Adult; Humans; Child; *Anemia, Aplastic/genetics/therapy/pathology; *Bone Marrow Diseases/genetics/therapy/pathology; Australia/epidemiology; Bone Marrow Failure Disorders; Syndrome; Registries; Aplastic anaemia; Inherited bone marrow failure; Inherited predisposition to haematological malignancy; Rare disease registry
Department(s): Clinical Haematology
Publisher's Version: https://doi.org/10.1016/j.beha.2023.101516
Open Access at Publisher's Site: https://doi.org/10.1016/j.beha.2023.101516
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2024-01-16 04:29:35

Last Modified: 2024-01-16 04:53:14