Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

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)70272-8

Cited by 999 publications

(1,056 citation statements)

References 131 publications

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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

“…The absence of dystrophin results in a progressive degeneration of muscle fibers, causing muscle weakness. Gait loss and functional dependence occur in the second decade of life 3 . Although the advances on treatment have increased the survival time, the functional independence is still poor, influencing biopsychosocial aspects of these children 4 and their caregivers 5 .…”

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confidence: 99%

Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?

Moura

Wutzki

Voos

et al. 2015

Arq. Neuro-Psiquiatr.

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Objective:The relationship between functional dependence and quality of life (QOL) in Duchenne muscular dystrophy (DMD) patients and burden and QOL in caregivers is not clear. This study investigated possible relationships between functional dependence/QOL of DMD patients and QOL/burden of caregivers. Method: This study included 35 boys (6-17 years) and respective caregivers (above 21 years). Caregivers answered to World Health Organization Quality of Life and Zarit Burden Interview questionnaires. Patients were assessed with the Motor Function Measure and the Autoquestionnaire Qualité de vie Enfant Imagé. Spearman correlations and linear regressions were run to investigate relationships between the variables. Results: The occurrence of lower QOL and higher burden among the caregivers of patients with Duchenne muscular dystrophy was evidenced. The functional dependence of patients was not considered a determinant factor. Higher caregivers' burden was related to lower caregivers' QOL and to higher patients' ages.Keywords: Duchenne muscular dystrophy, behavior, quality of life, motor activity. RESUMOObjetivo: A relação entre qualidade de vida e função motora de pacientes com distrofia muscular de Duchenne (DMD) e sobrecarga e qualidade de vida (QV) dos cuidadores não está clara na literatura. Esse estudo investigou possíveis relações entre dependência funcional/ QV de pacientes e sobrecarga/QV dos cuidadores em 35 meninos (6-17 anos) com DMD e respectivos cuidadores (acima de 21 anos). Método: Cada cuidador respondeu ao questionário de QV da Organização Mundial de Saúde e de sobrecarga de Zarit e o paciente foi avaliado com a medida de função motora e o Autoquestionnaire Qualité de vie Enfant Imagé. Correlações de Spearman e regressões lineares investigaram possíveis relações entre as variáveis. Resultados: A ocorrência de menor QV e maior sobrecarga entre cuidadores foi evidenciada, enquanto a dependência funcional dos pacientes não foi considerada fator

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“…Current guidelines emphasize the need for timely diagnosis of respiratory complications in DMD 3, 7. Most patients are not aware of their loss of respiratory muscle strength until a respiratory infection leads to pneumonia.…”

Section: Introductionmentioning

confidence: 99%

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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Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

Cited by 999 publications

References 131 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

Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

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