Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study.

Ricotti, Valeria; Selby, Victoria; Ridout, Deborah A.; Domingos, Joana P.; Decostre, Valérie; Mayhew, Anna G.; Eagle, Michelle; Butler, Jordan W.; Guglieri, Michela; Van der Holst, Menno; Jansen, Merel; Verschuuren, Jan J.G.M.; de Groot, Imelda J.M.; Niks, Erik H.; Servais, Laurent; Straub, Volker W.; Voit, Thomas; Hogrel, Jean-Yves; Muntoni, Francesco M.

doi:10.1016/j.nmd.2019.02.002

Article (Scientific journals)

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study.

Ricotti, Valeria; Selby, Victoria; Ridout, Deborah A. et al.

2019 • In Neuromuscular disorders : NMD, 29 (4), p. 261-268

Peer reviewed

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https://hdl.handle.net/2268/244031

DOI
10.1016/j.nmd.2019.02.002

PubMed
30852071

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Keywords :

Composite endpoint; Duchenne muscular dystrophy; Upper limb function and strength; forced vital capacity; peak expiratory flow; pulmonary function

Abstract :

[en] The field of translational research in Duchenne muscular dystrophy (DMD) has been transformed in the last decade by a number of therapeutic targets, mostly studied in ambulant patients. A paucity of studies focus on measures that capture the non-ambulant stage of the disease, and the transition between the ambulant and non-ambulant phase. In this prospective natural history study, we report the results of a comprehensive assessment of respiratory, upper limb function and upper limb muscle strength in a group of 89 DMD boys followed in 3 European countries, 81 receiving corticosteroids, spanning a wide age range (5-18 years) and functional abilities, from ambulant (n=60) to non-ambulant (n=29). Respiratory decline could be detected in the early ambulatory phase using Peak Expiratory Flow percentage predicted (PEF%), despite glucocorticoid use (mean annual decline: 4.08, 95% CI [-7.44,-0.72], p=0.02 in ambulant; 4.81, 95% CI [-6.79,-2.82], p < 0.001 in non-ambulant). FVC% captured disease progression in non-ambulant DMD subjects, with an annual loss of 5.47% (95% CI [-6.48,-4.45], p < 0.001). Upper limb function measured with the Performance of Upper Limb (PUL 1.2) showed an annual loss of 4.13 points (95% CI [-4.79,3.47], p < 0.001) in the non-ambulant cohort. Measures of upper limb strength (MyoGrip and MyoPinch) showed a continuous decline independent of the ambulatory status, when reported as percentage predicted (grip force -5.51%, 95% CI [-6.54,-4.48], p < 0.001 in ambulant and a slower decline -2.86%; 95% CI -3.29,-2.43, p < 0.001, in non-ambulant; pinch force: -2.66%, 95% CI [-3.82,-1.51], p < 0.001 in ambulant and -2.23%, 95% CI [-2.92,-1.53], p < 0.001 in non-ambulant). Furthermore, we also explored the novel concept of a composite endpoint by combining respiratory, upper limb function and force domains: we were able to identify clear clinical progression in patients in whom an isolated measurement of only one of these domains failed to appreciate the yearly change. Our study contributes to the field of natural history of DMD, linking the ambulant and non-ambulant phases of the disease, and suggests that composite scores should be explored further.

Disciplines :

Cardiovascular & respiratory systems
Neurology
Pediatrics

Author, co-author :

Ricotti, Valeria

Selby, Victoria

Ridout, Deborah A.

Domingos, Joana P.

Decostre, Valérie

Mayhew, Anna G.

Eagle, Michelle

Butler, Jordan W.

Guglieri, Michela

Van der Holst, Menno

More authors (9 more)

Language :

English

Title :

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study.

Publication date :

April 2019

Journal title :

Neuromuscular disorders : NMD

ISSN :

0960-8966

eISSN :

1873-2364

Volume :

Issue :

Pages :

261-268

Peer reviewed :

Peer reviewed

Commentary :

Available on ORBi :

since 23 January 2020

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