Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Bushby, K.; Finkel, Richard S.; Birnkrant, David J.; Case, Laura E.; Clemens, Paula R.; Cripe, Linda H.; Kaul, Ajay; Kinnett, Kathi; McDonald, Craig M.; Pandya, Shree; Poysky, James; Shapiro, Frederic; Tomezsko, Jean; Constantin, Carolyn M.

doi:10.1016/s1474-4422(09)70271-6

Cited by 1,719 publications

(1,764 citation statements)

References 130 publications

(78 reference statements)

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“…The overall historical control cohort used was considered a valid comparator group based on the following: (1) all patients who met the predefined entry criteria and visited the participating centers during the enrollment period were included in the historical control studies, supporting that the population enrolled represents an unbiased control cohort of DMD patients; (2) patients with cognitive impairment that could impact 6MWT outcome were excluded from all studies; (3) the participating clinics specialize in neuromuscular care and follow the internationally recognized treatment guidelines for patients with DMD27, 28 that is used for the eteplirsen‐treated patients, including recommendation for corticosteroid use, dose, and dose adjustment; (4) assessments of the 6MWT were performed by specifically trained physiotherapists according to the same established standards used for the eteplirsen‐treated patients 13. To further increase comparability between the groups not only at baseline but also by rate of disease progression, control patients were matched to the eteplirsen population based on (5) corticosteroid use, (6) age, and (7) genotype.…”

Section: Discussionmentioning

confidence: 99%

“…These 2 investigator‐initiated studies are the only DMD natural history data sets that have prospectively and consistently collected 6MWT assessments for a substantial number of patients for 36 months or longer. Comparability to the eteplirsen data set is supported by equivalent requirements across the studies for genetic confirmation of DMD diagnosis, patient care according to the same international treatment guidelines for DMD,27, 28 6MWT administration following generally accepted standards,13, 29, 30 and exclusion of patients with cognitive impairment that could interfere with test adherence. Patient‐level data from the registries were pooled, and analysis was performed to evaluate impact of genotype on disease natural history as well as to compare an appropriately matched historical control group to eteplirsen‐treated patients.…”

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confidence: 99%

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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Mendell

Goemans²,

Lowes

et al. 2016

Annals of Neurology

453

392

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ObjectiveTo continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three‐year progression of eteplirsen‐treated patients was compared to matched historical controls (HC).MethodsAmbulatory DMD patients who were ≥7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or placebo for 24 weeks. Thereafter, all received eteplirsen on an open‐label basis. The primary functional assessment in this study was the 6‐Minute Walk Test (6MWT). Respiratory muscle function was assessed by pulmonary function testing (PFT). Longitudinal natural history data were used for comparative analysis of 6MWT performance at baseline and months 12, 24, and 36. Patients were matched to the eteplirsen group based on age, corticosteroid use, and genotype.ResultsAt 36 months, eteplirsen‐treated patients (n = 12) demonstrated a statistically significant advantage of 151m (p < 0.01) on 6MWT and experienced a lower incidence of loss of ambulation in comparison to matched HC (n = 13) amenable to exon 51 skipping. PFT results remained relatively stable in eteplirsen‐treated patients. Eteplirsen was well tolerated. Analysis of HC confirmed the previously observed change in disease trajectory at age 7 years, and more severe progression was observed in patients with mutations amenable to exon skipping than in those not amenable. The subset of patients amenable to exon 51 skipping showed a more severe disease course than those amenable to any exon skipping.InterpretationOver 3 years of follow‐up, eteplirsen‐treated patients showed a slower rate of decline in ambulation assessed by 6MWT compared to untreated matched HC. Ann Neurol 2016;79:257–271

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Mendell

Goemans²,

Lowes

et al. 2016

Annals of Neurology

453

392

View full text Add to dashboard Cite

show abstract

“…Although respiratory morbidity is heralded by a decrease in FVC according to current guidelines,3 the MRI data indicate that younger ambulatory DMD patients show signs of diminished lung areas at total lung capacity and residual volume when their FVC is determined to be within normal range. Our results demonstrate a reduction in chest wall motion and validate the common perception that the diaphragm is not affected at this early stage in DMD.…”

Section: Discussionmentioning

confidence: 95%

“…Respiratory failure is inevitable in DMD 1. Multidisciplinary care and ventilatory support have increased longevity,2, 3 and corticosteroids and idebenone may stabilize the respiratory function in nonambulatory patients 4, 5. Restoration of the diaphragm function alone prevented cardiomyopathy in mice 6.…”

Section: Introductionmentioning

confidence: 99%

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Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

Mankodi

Kovacs

Norato

et al. 2017

Ann Clin Transl Neurol

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ObjectiveTo examine the diaphragm and chest wall dynamics with cine breathing magnetic resonance imaging (MRI) in ambulatory boys with Duchenne muscular dystrophy (DMD) without respiratory symptoms and controls.MethodsIn 11 DMD boys and 15 controls, cine MRI of maximal breathing was recorded for 10 sec. The lung segmentations were done by an automated pipeline based on a Holistically‐Nested Network model (HNN method). Lung areas, diaphragm, and chest wall motion were measured throughout the breathing cycle.ResultsThe HNN method reliably identified the contours of the lung and the diaphragm in every frame of each dataset (~180 frames) within seconds. The lung areas at maximal inspiration and expiration were reduced in DMD patients relative to controls (P = 0.02 and <0.01, respectively). The change in the lung area between inspiration and expiration correlated with percent predicted forced vital capacity (FVC) in patients (r s = 0.75, P = 0.03) and was not significantly different between groups. The diaphragm position, length, contractility, and motion were not significantly different between groups. Chest wall motion was reduced in patients compared to controls (P < 0.01).InterpretationCine breathing MRI allows independent and reliable assessment of the diaphragm and chest wall dynamics during the breathing cycle in DMD patients and controls. The MRI data indicate that ambulatory DMD patients breathe at lower lung volumes than controls when their FVC is in the normal range. The diaphragm moves normally, whereas chest wall motion is reduced in these boys with DMD.

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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy

Guglieri

Bushby

McDermott

et al. 2022

JAMA

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Key PointsQuestionWhat is the difference in clinical outcomes among 3 corticosteroid regimens (0.75 mg/kg of daily prednisone, 0.90 mg/kg of daily deflazacort, or 0.75 mg/kg of intermittent prednisone for 10 days on and then 10 days off) as initial treatment for boys with Duchenne muscular dystrophy?FindingsThis randomized clinical trial included 196 boys with Duchenne muscular dystrophy; the clinical outcome was a global outcome that incorporated a measure of rising from the floor, forced vital capacity, and global satisfaction with treatment assessed over 3 years. Daily prednisone and daily deflazacort resulted in significantly better outcomes compared with intermittent prednisone; there was no significant difference between the 2 daily regimens.MeaningThe findings support the use of a daily corticosteroid regimen over an intermittent prednisone regimen that alternates dosing for 10 days on and 10 days off as initial treatment for boys with Duchenne muscular dystrophy.

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Cited by 1,719 publications

References 130 publications

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy

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