Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in context

Summary: Background: There is limited evidence describing the changing natural history of DMD in Australia. Methods: This retrospective cohort study collated information on clinical management and disease milestones from medical records of males with DMD attending a paediatric hospital between 1973...

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Main Authors: Zoe E. Davidson, Suzanna Vidmar, Amanda Griffiths, Mark E. Howard, David J. Berlowitz, Elizabeth F. Jones, Tim Scully, Darran Treanor, Bikram Singh, David Prior, Matilde G. Frost, Robin Forbes, Natassja Billich, Justine Adams, Kate Carroll, Tuqa Al Lawati, Hannah Bourne, Andrew J. Kornberg, Monique M. Ryan, Ian R. Woodcock, Eppie M. Yiu, Michael M.H. Cheung
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:The Lancet Regional Health. Western Pacific
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2666606525001051
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author Zoe E. Davidson
Suzanna Vidmar
Amanda Griffiths
Mark E. Howard
David J. Berlowitz
Elizabeth F. Jones
Tim Scully
Darran Treanor
Bikram Singh
David Prior
Matilde G. Frost
Robin Forbes
Natassja Billich
Justine Adams
Kate Carroll
Tuqa Al Lawati
Hannah Bourne
Andrew J. Kornberg
Monique M. Ryan
Ian R. Woodcock
Eppie M. Yiu
Michael M.H. Cheung
author_facet Zoe E. Davidson
Suzanna Vidmar
Amanda Griffiths
Mark E. Howard
David J. Berlowitz
Elizabeth F. Jones
Tim Scully
Darran Treanor
Bikram Singh
David Prior
Matilde G. Frost
Robin Forbes
Natassja Billich
Justine Adams
Kate Carroll
Tuqa Al Lawati
Hannah Bourne
Andrew J. Kornberg
Monique M. Ryan
Ian R. Woodcock
Eppie M. Yiu
Michael M.H. Cheung
author_sort Zoe E. Davidson
collection DOAJ
description Summary: Background: There is limited evidence describing the changing natural history of DMD in Australia. Methods: This retrospective cohort study collated information on clinical management and disease milestones from medical records of males with DMD attending a paediatric hospital between 1973 and 2019 and linked this to information from two adult tertiary hospitals. Data were stratified by decade of birth and Kaplan Meier analyses were conducted to describe median time to key disease milestones. Findings: The cohort included 356 individuals with DMD with year of birth ranging from 1958 to 2014 and median (interquartile range, IQR) follow up time from diagnosis of 10.5 (4.1, 15.7) years. Use of corticosteroids, angiotensin-converting enzyme inhibitors (ACE-I), echocardiography and respiratory support increased over time. Mean age of diagnosis decreased from 6.4 years in those born before 1970 to 3.4 years in those born 2010–2019. Median (IQR) survival increased over time from 18.2 (15.2, 20.4) years in those born before 1970 to 24.0 (20.3, 27.5) years in those born between 1990 and 1999. Increased life expectancy was observed in individuals using corticosteroids, ACE-I and respiratory support. Interpretation: Survival in individuals with DMD has increased over the last five decades, likely due to changes in clinical management. Given the increased population surviving to adulthood, there is a need to enhance clinical services and surveillance to support neuromuscular disease in Australia, especially in transitional care and adult populations. Funding: Independent Research Grant, Pfizer Australia.
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spelling doaj-art-d63ee622284d4ed088d1dba6eecd80ec2025-08-20T01:49:05ZengElsevierThe Lancet Regional Health. Western Pacific2666-60652025-05-015810156810.1016/j.lanwpc.2025.101568Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in contextZoe E. Davidson0Suzanna Vidmar1Amanda Griffiths2Mark E. Howard3David J. Berlowitz4Elizabeth F. Jones5Tim Scully6Darran Treanor7Bikram Singh8David Prior9Matilde G. Frost10Robin Forbes11Natassja Billich12Justine Adams13Kate Carroll14Tuqa Al Lawati15Hannah Bourne16Andrew J. Kornberg17Monique M. Ryan18Ian R. Woodcock19Eppie M. Yiu20Michael M.H. Cheung21Murdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, Australia; Department Nutrition, Dietetics and Food, Monash University, Melbourne, Australia; Corresponding author. Level 1, 264 Ferntree Gully Road, Notting Hill, Victoria 3186, Australia.Clinical Epidemiology and Biostatistics Unit, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, AustraliaDepartment of Paediatrics, University of Melbourne, Victoria, Australia; Department of Respiratory and Sleep Medicine, Royal Children’s Hospital, Melbourne, Victoria, Australia; Murdoch Children’s Research Institute, Respiratory Research, Melbourne, Victoria, Australia; Austin Health, Institute for Breathing and Sleep, Melbourne, Victoria, AustraliaAustin Health, Institute for Breathing and Sleep, Melbourne, Victoria, Australia; Department of Medicine, University of Melbourne, Victoria, AustraliaAustin Health, Institute for Breathing and Sleep, Melbourne, Victoria, Australia; Department of Physiotherapy, University of Melbourne, Victoria, AustraliaAustin Health, Cardiology Department, Melbourne, Victoria, AustraliaAustin Health, Cardiology Department, Melbourne, Victoria, AustraliaAustin Health, Institute for Breathing and Sleep, Melbourne, Victoria, AustraliaAustin Health, Institute for Breathing and Sleep, Melbourne, Victoria, AustraliaDepartment of Medicine, University of Melbourne, Victoria, Australia; Department of Cardiology, Fitzroy Department, St Vincent’s Hospital Melbourne, Melbourne, Victoria, AustraliaCardiology Department, Royal Children’s Hospital, Melbourne, Victoria, AustraliaNeurology Department, Royal Children’s Hospital, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, Australia; Department Nutrition, Dietetics and Food, Monash University, Melbourne, AustraliaMurdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, AustraliaCardiology Department, Royal Children’s Hospital, Melbourne, Victoria, AustraliaCardiology Department, Royal Children’s Hospital, Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, Australia; Department Nutrition, Dietetics and Food, Monash University, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, AustraliaMurdoch Children’s Research Institute, Neuroscience Research, Melbourne, Victoria, Australia; Neurology Department, Royal Children’s Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, AustraliaDepartment of Paediatrics, University of Melbourne, Victoria, Australia; Cardiology Department, Royal Children’s Hospital, Melbourne, Victoria, Australia; Murdoch Children’s Research Institute, Heart Research, Melbourne, Victoria, AustraliaSummary: Background: There is limited evidence describing the changing natural history of DMD in Australia. Methods: This retrospective cohort study collated information on clinical management and disease milestones from medical records of males with DMD attending a paediatric hospital between 1973 and 2019 and linked this to information from two adult tertiary hospitals. Data were stratified by decade of birth and Kaplan Meier analyses were conducted to describe median time to key disease milestones. Findings: The cohort included 356 individuals with DMD with year of birth ranging from 1958 to 2014 and median (interquartile range, IQR) follow up time from diagnosis of 10.5 (4.1, 15.7) years. Use of corticosteroids, angiotensin-converting enzyme inhibitors (ACE-I), echocardiography and respiratory support increased over time. Mean age of diagnosis decreased from 6.4 years in those born before 1970 to 3.4 years in those born 2010–2019. Median (IQR) survival increased over time from 18.2 (15.2, 20.4) years in those born before 1970 to 24.0 (20.3, 27.5) years in those born between 1990 and 1999. Increased life expectancy was observed in individuals using corticosteroids, ACE-I and respiratory support. Interpretation: Survival in individuals with DMD has increased over the last five decades, likely due to changes in clinical management. Given the increased population surviving to adulthood, there is a need to enhance clinical services and surveillance to support neuromuscular disease in Australia, especially in transitional care and adult populations. Funding: Independent Research Grant, Pfizer Australia.http://www.sciencedirect.com/science/article/pii/S2666606525001051Duchenne muscular dystrophyCohort studySurvivalNatural history
spellingShingle Zoe E. Davidson
Suzanna Vidmar
Amanda Griffiths
Mark E. Howard
David J. Berlowitz
Elizabeth F. Jones
Tim Scully
Darran Treanor
Bikram Singh
David Prior
Matilde G. Frost
Robin Forbes
Natassja Billich
Justine Adams
Kate Carroll
Tuqa Al Lawati
Hannah Bourne
Andrew J. Kornberg
Monique M. Ryan
Ian R. Woodcock
Eppie M. Yiu
Michael M.H. Cheung
Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in context
The Lancet Regional Health. Western Pacific
Duchenne muscular dystrophy
Cohort study
Survival
Natural history
title Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in context
title_full Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in context
title_fullStr Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in context
title_full_unstemmed Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in context
title_short Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort studyResearch in context
title_sort survival in duchenne muscular dystrophy in australia a 50 year retrospective cohort studyresearch in context
topic Duchenne muscular dystrophy
Cohort study
Survival
Natural history
url http://www.sciencedirect.com/science/article/pii/S2666606525001051
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