Life Expectancy in Duchenne Muscular Dystrophy

Abstract

Objective:Duchenne Muscular Dystrophy (DMD) is a rare progressive disease, which is often diagnosed in early childhood, and leads to considerably reduced life-expectancy; due to its rarity, research literature and patient numbers are limited. To fully characterise the natural history, it is crucial to obtain appropriate estimates of the life-expectancy and mortality rates of patients with DMD.Methods:A systematic review of the published literature on mortality in DMD up until July 2020 was undertaken, specifically focusing on publications in which Kaplan-Meier (KM) survival curves with age as a time-scale were presented. These were digitised and individual patient data (IPD) reconstructed. The pooled IPD were analysed using the Kaplan-Meier estimator and parametric survival analysis models. Estimates were also stratified by birth cohort.Results:Of 1177 articles identified, 14 publications met the inclusion criteria and provided data on 2283 patients, of whom 1049 had died. Median life-expectancy was 22.0 years (95% CI: 21.2, 22.4). Analyses stratifying by three time-periods in which patients were born showed markedly increased life-expectancy in more recent patient populations; patients born after 1990 have a median life-expectancy of 28.1 years (95% CI 25.1, 30.3).Conclusions:This paper presents a full overview of mortality across the lifetime of a patient with DMD, and highlights recent improvements in survival. In the absence of large-scale prospective cohort studies or trials reporting mortality data for patients with DMD, extraction of IPD from the literature provides a viable alternative to estimating life-expectancy for this patient population.

Recent Trends in Antisense Therapies for Duchenne Muscular Dystrophy

“…Between the ages of 18 and 20, patients typically require ventilatory assistance as the disease begins to affect the respiratory and cardiac muscles. This progression ultimately proves fatal for most patients, with DMD-related cardiomyopathy as the leading cause of death and a median lifespan of only 28 years [ 21 ]. No cure currently exists for DMD.…”

Quality of life in patients with chronic respiratory failure on home mechanical ventilation

“…Early and accurate disease classification is imperative and NMD should be classified as slowly or rapidly progressive and inherited or acquired, since these factors will influence health perception and HRQoL ( table 2 ). For instance, Duchenne muscular dystrophy presents in childhood and is now considered a chronic multisystem disease in which advances in respiratory, cardiac and nutritional therapeutics have extended life expectancy in recent decades [ 6 ]. In contrast, the incidence of amyotrophic lateral sclerosis (ALS) is highest in the sixth and seventh decades and death typically occurs 2–4 years after diagnosis, most commonly from respiratory failure caused by respiratory muscle weakness [ 7 , 8 ].…”

Recent Trends in Antisense Therapies for Duchenne muscular dystrophy

“…Between the ages of 18-20 patients typically require ventilatory assistance as the disease begins to affect the respiratory and cardiac muscles. This progression ultimately proves fatal for most patients, with DMD-related cardiomyopathy as the leading cause of death and a median lifespan of only 28 years [11]. No cure currently exists for DMD.…”