Duchenne Muscular Dystrophy (DMD) is a rare, muscle-degeneration disease predominantly affecting males. The mainstay of treatment for DMD are corticosteroids, which have been shown to delay the decline in many functions and even prolong life. Many new treatments for DMD are currently in development. A multi-state natural history model is being constructed that captures the full disease pathway of DMD and to which treatment effects of new medicines can be applied to work out cost-effectiveness, for health technology decision-makers such as NICE.
External data has been used to populate the majority of the natural history model; however, mortality data is severely lacking, especially for UK patients treated with more recent standards of care. Additionally, the order in which patients progress through later stages of the disease is a key part of the model for which evidence is lacking.
The primary objective of this research is to estimate age-specific mortality rates for males diagnosed with DMD. The impact of corticosteroids on these mortality rates will be investigated. These rates will be used to inform a natural history model of DMD patients. New methods for constructing multi-state natural history models of rare diseases will also be developed in this research to reflect the often varied nature of data sources.
The exposure is patients with a DMD diagnosis and the outcome is all-cause death, with secondary disease characteristics of spinal surgery and cardiomyopathy also of interest. Death will be defined by ONS mortality data, where available; otherwise, by CPRD primary data. Where death date is missing, the date the patient was last known to be alive will be informed by HES Admitted Patient Care, HES Outpatient and CPRD primary data. Mortality rates for specific ages will be estimated using survival regression. They will also be adjusted by corticosteroid use in the secondary analysis.
All-cause mortality; spinal surgery; cardiomyopathy
Mark Rutherford - Chief Investigator - University of Leicester
Jonathan Broomfield - Corresponding Applicant - University of Leicester
Keith Abrams - Collaborator - University of York
Michael Crowther - Collaborator - Karolinska Institute Sweden
Michael Sweeting - Collaborator - University of Leicester