The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry.
Aplastic anaemia
Inherited bone marrow failure
Inherited predisposition to haematological malignancy
Rare disease registry
Journal
Best practice & research. Clinical haematology
ISSN: 1532-1924
Titre abrégé: Best Pract Res Clin Haematol
Pays: Netherlands
ID NLM: 101120659
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
14
08
2023
accepted:
14
09
2023
medline:
14
12
2023
pubmed:
14
12
2023
entrez:
13
12
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 38092475
pii: S1521-6926(23)00077-4
doi: 10.1016/j.beha.2023.101516
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
101516Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.