Corticosteroids in Duchenne muscular dystrophy: Major variations in practice

Griggs, Robert C.; Herr, Barbara E.; Reha, A.; Elfring, Gary L.; Atkinson, Leone; Cwik, Valerie; McColl, Elaine; Tawil, Rabi; Pandya, Shree; McDermott, Michael P.; Bushby, Kate

doi:10.1002/mus.23831

Cited by 94 publications

(80 citation statements)

References 37 publications

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“…Consistent with clinic surveys showing that daily dosing is most common, approximately 85% of current steroid users in DuchenneConnect report taking steroids daily [14,24];…”

Section: Comparison Of Steroid Regimens In Duchenneconnectmentioning

confidence: 77%

“…An important caveat to our analysis is that specific dosing of steroids is not captured in DuchenneConnect, although clinical surveys indicate the most commonly prescribed doses are 0.75mg/kg/day of prednisone daily, or an equivalent daily dose of deflazacort, 0.9mg/kg/day [14,24].. Future versions of the registry will solicit exact dose.…”

Section: Cc-by-nd 40 International License Peer-reviewed) Is the Autmentioning

confidence: 99%

“…However, the optimal dosing regimen and steroid type remain unclear [13], and physician/patient usage remains variable [14].…”

Section: Introductionmentioning

confidence: 99%

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Online Self-Report Data for Duchenne Muscular Dystrophy confirms natural history and can be used to assess for therapeutic benefits

Wang

Fadlon

Ulm

et al. 2014

Preprint

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To assess the utility of online patient self-report outcomes in a rare disease, we attempted to observe the effects of corticosteroids in delaying age at fulltime wheelchair use in Duchenne muscular dystrophy (DMD) using data from 1,057 males from DuchenneConnect, an online registry. Data collected were compared to prior natural history data in regard to age at diagnosis, mutation spectrum, and age at loss of ambulation. Because registrants reported differences in steroid and other medication usage, as well as age and ambulation status, we could explore these data for correlations with age at loss of ambulation. Using multivariate analysis, current steroid usage was the most significant and largest independent predictor of improved wheelchair-free survival. Thus, these online self-report data were sufficient to retrospectively observe that current steroid use by patients with DMD is associated with a delay in loss of ambulation. Comparing commonly used steroid drugs, deflazacort prolonged ambulation longer than prednisone (median 14 years and 13 years, respectively). Further, use of Vitamin D and Coenzyme Q10, insurance status, and age at diagnosis after 4 years were also significant, but smaller, independent predictors of longer wheelchair-free survival. Nine other common supplements were also individually tested but had lower study power. This study demonstrates the utility of DuchenneConnect data to observe therapeutic differences, and highlights needs for improvement in quality and quantity of patient-report data, which may allow exploration of drug/therapeutic practice combinations impractical to study in clinical trial settings.

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“…Consistent with clinic surveys showing that daily dosing is most common, approximately 85% of current steroid users in DuchenneConnect report taking steroids daily [14,24];…”

Section: Comparison Of Steroid Regimens In Duchenneconnectmentioning

confidence: 77%

Section: Cc-by-nd 40 International License Peer-reviewed) Is the Autmentioning

confidence: 99%

See 1 more Smart Citation

Online Self-Report Data for Duchenne Muscular Dystrophy confirms natural history and can be used to assess for therapeutic benefits

Wang

Fadlon

Ulm

et al. 2014

Preprint

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“…Later studies have demonstrated that different drugs with an equivalent dose show similar effects: prednisone or prednisolone 0.75mg/Kg daily (Level of evidence: 1A, Class of Recommendation: A) 35 or deflazacort 0.9 to 1mg/Kg daily (Level of evidence: 3C, Class of Recommendation: C) 44,45 . Several different drug regimens have been evaluated, but not as extensively as the above daily schemes 44,45,46,47,48 . These different regimens aim to minimize side effects and/or improve the treatment adherence.…”

Section: Which Glucocorticoid Should Be Prescribed and What Dose Is Rmentioning

confidence: 99%

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives

Araujo

Carvalho

Cavalcanti³

et al. 2017

Arq. Neuro-Psiquiatr.

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Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD. The main recommendations: 1) genetic testing in diagnostic suspicious cases should be the first line for diagnostic confirmation; 2) patients diagnosed with DMD should have steroids prescribed; 3) lack of published results for phase 3 clinical trials hinders, for now, the recommendation to use exon skipping or read-through agents.Keywords: muscular dystrophy, Duchenne; practice guideline; consensus; diagnosis; genetic testing; drug therapy; glucocorticoids; utrophin. RESUMOAvanços na compreensão e no manejo da distrofia muscular de Duchenne (DMD) ocorreram desde a publicação de diretrizes internacionais em 2010. Nosso objetivo foi elaborar um consenso nacional baseado em evidências de cuidado multidisciplinar dos pacientes com DMD no Brasil. Utilizamos a técnica de Delphi combinada com revisão sistemática da literatura de 2010 a 2016 classificando níveis de evidência e graus de recomendação. Nossas recomendações foram divididas em duas partes. Apresentamos aqui a parte 1, descrevendo a metodologia utilizada e conceitos gerais da doença, e fornecemos recomendações sobre diagnóstico, tratamento com corticosteroides e novas perspectivas de tratamentos medicamentosos. As principais recomendações: 1) testes genéticos deveriam ser a primeira linha para confirmação de casos suspeitos; 2) pacientes com diagnóstico de DMD devem receber corticosteroides; 3) por enquanto, a falta de publicações de resultados dos ensaios clínicos de fase 3, dificulta recomendações de uso medicamentos que "saltam exons" ou "passam" por código de parada prematura.

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“…DMD is an inherited X-linked muscular dystrophy generated due to the mutations in DMD gene, encoding Dystrophin protein. As discussed above, not only one specific mutation but rather combinatorial effects [25,[48][49][50][51][52]. But none of these approaches alone can cure the disease completely, majorly because in Dp malfunctioning or deficiency, not only DAPC mediated mechanical support gets destabilized but also a drastic change occurs in the flux of ion current through the ion channels in cell membrane [44].…”

Section: Biological Implementationsmentioning

confidence: 99%

Domain Wise Distribution of Mutations in Dystrophin Protein and Duchenne Muscular Dystrophy

Bagchi¹

2015

Gene Technol

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Duchenne muscular dystrophy, the most common inherited X-linked recessive muscular dystrophy, affects 20000 new borns per year globally. Since its discovery in 1860, extensive research works have been carried out to understand the complex architecture of the disease formation. Reason behind the onset of the disease has been mapped back to the set of mutations of different types in dystrophin gene (DMD, 2.4 million bp), the largest gene in the body. Dystrophin (Dp), the cytosolic protein acts as the root of the complex which was primarily thought to link extracellular matrix with cellular actin cytoskeleton but later on has been associated with the stability of the cells, signal transduction as well as in proper development. In this review, we gathered the details of all the mutations occurring in DMD gene and observed that majority of the mutations are present in the N terminal Actin Binding Domain. Some of the mutations were found to be present in the Cysteine Rich Domain of the protein, reflecting the point that these two domains are the most mutation prone regions contributing to Duchenne Muscular Dystrophy (DMD) onset. This review therefore gives an integrative view describing the involvements of Dp in regulating the complexity of DMD disease with a future aspect to study the structural details of DMD genes along with its genetic variations.

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Corticosteroids in Duchenne muscular dystrophy: Major variations in practice

Abstract: Variability in corticosteroid use suggests uncertainty about risks/benefits of corticosteroid regimens for DMD.

Cited by 94 publications

References 37 publications

Online Self-Report Data for Duchenne Muscular Dystrophy confirms natural history and can be used to assess for therapeutic benefits

Online Self-Report Data for Duchenne Muscular Dystrophy confirms natural history and can be used to assess for therapeutic benefits

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives

Domain Wise Distribution of Mutations in Dystrophin Protein and Duchenne Muscular Dystrophy

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