Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Humbertclaude, Véronique; Hamroun, Dalil; Bezzou, Kamel; Bérard, C.; Boespflug‐Tanguy, Odile; Bommelaer, C.; Campana‐Salort, Emmanuelle; Cancés, Claude; Chabrol, B.; Commare, Marie-Christine; Cuisset, Jean‐Marie; Lattre, Capucine de; Desnuelle, Claude; Échenne, B.; Halbert, Christine L.; Jonquet, O.; Labarre-Vila, Annick; Nguyen-Morel, Marie-Ange; Pages, M.; Pépin, Jean‐Louis; Petitjean, T.; Pouget, Jean; Ollagnon‐Roman, Elisabeth; Richelme, Christian; Rivier, François; Sacconi, Sabrina; Tiffreau, V.; Vuillerot, Carole; Picot, Marie‐Christine; Claustres, Mireille; Béroud, Christophe; Tuffery‐Giraud, Sylvie

doi:10.1016/j.ejpn.2011.07.001

Cited by 118 publications

(146 citation statements)

References 32 publications

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“…Our PImax results, showing no significant evolution of PImax from 5 to 20 years of age, are in agreement with another longitudinal study [5] but differ from a transverse study showing a PImax increase from 7 to 14 years of age followed by a decrease in 15-18-year-old DMD patients [27].…”

Section: Maximal Inspiratory Pressuresupporting

confidence: 81%

“…Respiratory impairment in neuromuscular diseases is assessed by the measurement of maximal inspiratory pressure (PImax), slow vital capacity (VC) and, more recently, sniff nasal inspiratory pressure (SNIP). Studies describing longitudinal follow-up of respiratory function for o2 years in children with BMD or DMD have been based on PImax measurements [2][3][4] and lung volumes [2][3][4][5][6][7]. At the time of writing, there was no published prospective study describing longitudinal assessment of inspiratory muscle strength by SNIP measurements.…”

Section: Introductionmentioning

confidence: 99%

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Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children

et al. 2012

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Traditional measures of respiratory function in children with Duchenne muscular dystrophy (DMD) are based on maximal inspiratory pressure (PImax) and vital capacity (VC). Sniff nasal inspiratory pressure (SNIP) measurements are easily performed by young children with neuromuscular disorders. The clinical value of SNIP in the longitudinal assessment of respiratory weakness remains to be assessed. The objective of the present study was to assess longitudinally the changes in SNIP, PImax and VC with age in DMD children. We hypothesised that their longitudinal assessment would show an earlier decline in SNIP than VC.A 3-year, prospective follow-up, at 6-month intervals of, 33 steroid-naïve, 5-20-year-old DMD patients was analysed using a linear mixed model. SNIP measurements were reliable (within-session coefficient of variation 8%). SNIP and VC increased until 10.5 and 12.5 years of age, respectively, and declined thereafter, while PImax did not change with age.SNIP was an earlier marker of decline in respiratory muscle strength (at 10.5 years) than VC (at 12.5 years) in young DMD patients. SNIP longitudinal assessment is useful in the detection of inspiratory strength decline in young DMD patients when VC values remain within normal values and as an outcome measure in clinical trials for emerging therapeutics in young DMD patients from the age of 5 years. @ERSpublications Earlier sniff nasal inspiratory pressure than vital capacity decline in follow-up of Duchenne muscular dystrophy children

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Section: Maximal Inspiratory Pressuresupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children

et al. 2012

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“…Three major factors limit the discussion of the results obtained here 1 : the lack of studies on energy expenditure during gait in patients with DMD 2 , the methodological variety of studies on resting energy expenditure and the number of subjects analyzed here 3 . For this reason, generalizations would be improper, limited, thus, to the proposition of interventions only to the participants patients.…”

Section: Discussionmentioning

confidence: 99%

“…This progressive muscle weakness cause postural and gait changes, leading the patient to loss of ambulation [2][3][4] . Thus, the rehabilitation of patients with DMD aims to slow the progress of deformities and to provide a better quality of life, especially for the maintenance of gait for as long as possible 4 .…”

Section: Introductionmentioning

confidence: 99%

Gait energy expenditure in children with Duchenne muscular dystrophy: case study

Souza¹,

Ferreira²,

Baptista³

et al. 2014

Fisioter. Pesqui.

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| This case study aimed to verify the model of Rose et al. 1 as a feasible to assess energy expenditure in gait of children with Duchenne muscular dystrophy (DMD). Three DMD patients aged 6, 7 and 8 years old participated of this study. It was obtained weight, height, leg length measurement (LLM), resting and gait heart rate (HR) held on as 55-meter oval circuit performed during a two-minute test at each speed. Energy expenditure was calculated using the HR. It was performed a descriptive analysis (average) and these were compared, individually, to normative data. The average gait speed of these three patients was similar to the normative data for slow speed and lower considering comfortable and fast speed. The energy expenditure to slow speed of the patients 2 and 3 was similar to the normality, and lowest for patient 1; at comfortable speed, the energy expenditure obtained for all patients was similar; at fast speed, the patients 1 and 2 presented similar to normal values, but the patient 3 presented higher energy expenditure. It was concluded that the energy expenditure evaluation using HR was easily executed in the clinical practice and it can help therapeutic choices. For patient 3, an aerobic training could be indicated and for the others, they could keep the routine assessments.

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“…6 Therefore, respiratory strength in DMD (assessed by PEF) is a measure not only of expiratory strength but also inspiratory effort and upper airway resistance, which are both abnormal in DMD. 11,12 There is a theoretical possibility that PEF may be more sensitive to a treatment intervention than FVC due to the impact of fibrosis and chest wall deformities on FVC. All three of these measures -PEF, FVC and FEV 1 -can be obtained with high reliability in DMD patients older than ~8 years.…”

Section: Respiratory Function Loss and Respiratory Endpoints In Dmdmentioning

confidence: 99%

Idebenone as a Novel Therapeutic Approach for Duchenne Muscular Dystrophy

Buyse

Gueven

McDonald

2015

European Neurological Review

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Progressive loss of pulmonary function leads to early morbidity and mortality in Duchenne muscular dystrophy (DMD) due to both expiratory impairment with ineffective airway clearance, and inspiratory impairment leading to nocturnal and daytime hypoventilation and respiratory failure. Glucocorticoid steroids have become a mainstay of DMD therapy with well-documented efficacy on muscle strength and respiratory function. However, the side-effect profile restricts their long-term use, particularly in non-ambulant patients. Idebenone improves secondary mitochondrial dysfunction caused by dystrophin deficiency, intracellular calcium accumulation and increased reactive oxygen species (ROS). Idebenone-mediated improved bioenergetics leads to enhanced adenosine triphosphate (ATP) production and reduced ROS. Based on this rationale, idebenone has been investigated clinically for efficacy on reducing respiratory function decline in exploratory phase II (DELPHI) and confirmatory phase III (DELOS) trials. Idebenone significantly reduced the loss of respiratory function in 8-18-year-old DMD patients who were not using concomitant glucocorticoids. These results indicate that idebenone can modify the natural course of respiratory disease progression in DMD, which is relevant in clinical practice where loss of respiratory function continues to be a predominant cause of early morbidity and mortality in DMD. KeywordsDuchenne muscular dystrophy, idebenone, respiratory function, peak expiratory flow, glucocorticoid steroid 1,2 increase quality of life and life expectancy, the disease is still associated with early morbidity and mortality. In DMD, progressive weakness of the chest wall muscles precedes weakness of the diaphragm (used predominantly for inspiratory function) and leads to restrictive lung volume changes measured as reduced total lung capacity and forced vital capacity (FVC). [3][4][5][6][7] Initially, this loss of lung volume results from the inability to pull up the respiratory system to total lung capacity and to push it down to residual volume. In later disease stages, additional restrictions occur as a result of progressing muscle fibrosis and changes in lung and chest wall recoil, thoracic wall compliance and spinal deformities (i.e. scoliosis).In the late first decade the earliest signs of respiratory impairment manifest by reduced static airway pressures (maximal expiratory and inspiratory pressures). The gradual loss of respiratory function in DMD measured by spirometry usually begins early in the second decade and progresses to restrictive pulmonary syndrome, impaired respiratory secretion clearance, life-threatening pulmonary infections due to ineffective cough, nocturnal and daytime hypoventilation, obstructive apnoeas and eventually respiratory failure during the late second or third decade of life. 3,[8][9][10]

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Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Cited by 118 publications

References 32 publications

Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children

Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children

Gait energy expenditure in children with Duchenne muscular dystrophy: case study

Idebenone as a Novel Therapeutic Approach for Duchenne Muscular Dystrophy

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