Non-Invasive Respiratory Assessment in Duchenne Muscular Dystrophy: From Clinical Research to Outcome Measures

Abstract

Ventilatory failure, due to the progressive wasting of respiratory muscles, is the main cause of death in patients with Duchenne muscular dystrophy (DMD). Reliable measures of lung function and respiratory muscle action are important to monitor disease progression, to identify early signs of ventilatory insufficiency and to plan individual respiratory management. Moreover, the current development of novel gene-modifying and pharmacological therapies highlighted the urgent need of respiratory outcomes to quantify the effects of these therapies. Pulmonary function tests represent the standard of care for lung function evaluation in DMD, but provide a global evaluation of respiratory involvement, which results from the interaction between different respiratory muscles. Currently, research studies have focused on finding novel outcome measures able to describe the behavior of individual respiratory muscles. This review overviews the measures currently identified in clinical research to follow the progressive respiratory decline in patients with DMD, from a global assessment to an individual structure–function muscle characterization. We aim to discuss their strengths and limitations, in relation to their current development and suitability as outcome measures for use in a clinical setting and as in upcoming drug trials in DMD.

How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?

“…Besides chronic skeletal muscle wasting [ 23 , 24 ] and impaired neuromuscular transmission [ 293 ], Duchenne patients suffer from multi-system dysfunction [ 29 , 30 , 31 ] involving a variety of tissue and organ systems [ 32 , 33 , 34 ]. These body-wide abnormalities include cardiomyopathy [ 294 , 295 , 296 ], respiratory failure [ 297 , 298 , 299 , 300 ], liver atrophy [ 301 , 302 ], renal failure [ 303 , 304 , 305 , 306 ], bladder dysfunction [ 307 , 308 , 309 , 310 ] and gastrointestinal complications [ 311 , 312 , 313 ], as well as bone fragility [ 314 ] and scoliosis [ 315 , 316 , 317 ]. A subset of Duchenne patients suffers from neurological deficiencies that manifest themselves as neurodevelopmental delays, emotional disturbances, mental retardation and behavioral problems [ 318 , 319 , 320 , 321 , 322 ].…”

Community‐based respiratory health measures in children and young people with cerebral palsy: A scoping review

“…A key rationale for this review, and what sets children with CP apart from other chronic respiratory populations, is the difficulty replicating 'criterion standard' respiratory measures such as spirometry. 23,78 Reported eligibility criteria of F I G U R E 4 Visual presentation of measurement domains across reported measurer characteristics. Abbreviation: QoL, quality of life.…”

Perfluorocarbons: A perspective of theranostic applications and challenges

“…Of course, treatments based on genetic modification are under research, which hopes to restore the lost function in these patients. However, picking the proper treatment is still a challenge in the Muscular dystrophies (Carter et al, 2018;Pennati et al, 2021). PFCs NPs are expressed as drug delivery carriers for muscular dystrophy therapeutic substitutes.…”