Clinical investigation in duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history

Mh, Brooke; Gm, Fenichel; Griggs, Robert C.; Mendell,; Moxley, Richard T.; Jp, Miller; Ma, Province

doi:10.1002/mus.880060204

Cited by 332 publications

(209 citation statements)

References 13 publications

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“…6 BMD has been estimated to occur approximately one-tenth as frequently as DMD, with an incidence of ϳ3 per 100,000 newborns. 7 These patients can usually be recognized by the age of 3 years by the relative preservation of strength in neck flexion (antigravity neck flexor muscles), whereas patients with DMD lack this ability throughout their entire life. The intermediate patients retain the ability to climb stairs and walk (after the age of 12 but not beyond 15 years) longer than patients with typical DMD.…”

Section: Mutations In the Dystrophin Gene Results In Both Duchenne Andmentioning

confidence: 99%

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Prior

Bridgeman

2005

The Journal of Molecular Diagnostics

130

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Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophies (DMD and BMD). Approximately two-thirdsDuchenne and Becker muscular dystrophies (DMD and BMD) are X-linked, allelic, neuromuscular diseases characterized by progressive muscular weakness and degeneration of skeletal muscle. DMD is the most common X-linked recessive lethal disease with an incidence of ϳ1 in 3500 newborns, and it has been estimated that approximately one third of the cases result from new mutations.

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Section: Mutations In the Dystrophin Gene Results In Both Duchenne Andmentioning

confidence: 99%

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Prior

Bridgeman

2005

The Journal of Molecular Diagnostics

130

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“…4,5 Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Death usually occurs in the 20s, with the chance of surviving to age 25 being determined mainly by the use of ventilatory support.…”

Section: Abstract-backgroundmentioning

confidence: 99%

“…However, during months 4 to 6 of alternate-day therapy, patients taking prednisone 1.25 or 2.5 mg/kg every other day lost the major benefits on strength and muscle function 26 that had occurred previously with daily prednisone and showed a decline in average muscle strength that paralleled the previously established rates typical for the natural history of DD. 4,5 These findings indicate that alternate-day prednisone at dosages of 1.25 and 2.5 mg/kg every other day is not sufficient to achieve the sustained beneficial effects that occur with daily prednisone in dosages ranging from 0.3 to 1.5 mg/kg/day.An earlier class I study 30 evaluated the efficacy of 5.0 mg/kg every other day of prednisolone. Investigators gave prednisolone 5.0 mg/kg every other day or placebo every other day for 3 years.…”

mentioning

confidence: 98%

Practice Parameter: Corticosteroid treatment of Duchenne dystrophy [RETIRED]

Moxley¹,

Ashwal²,

Pandya³

et al. 2005

Neurology

279

183

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Abstract-Background:The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society develop practice parameters as strategies for patient management based on analysis of evidence. Objective: To review available evidence on corticosteroid treatment of boys with Duchenne dystrophy. Methods: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a four-tiered scheme of evidence classification, and areas for future research are defined. Results: Seven class I studies and numerous less rigorous trials all demonstrated that corticosteroid treatment for 6 months with prednisone (0.75 or 1.5 mg/kg/day) increased muscle strength, performance, and pulmonary function and significantly slowed the progression of weakness. Two class I trials examined the effect of lower dosage of prednisone (0.30 and 0.35 mg/kg/day), demonstrated lesser but similar benefits, and showed a lower frequency of side effects (e.g., weight gain). The only significant side effects in all class I trials were weight gain and development of a cushingoid facial appearance. One longer-term trial of daily prednisone (0.3 to 0.7 mg/kg/day), a class III study, showed prolongation of functional ability and slower progression of weakness in patients during 3 years of treatment. One class IV, open trial of alternate-day prednisone (2 mg/kg for 2 months, then two-thirds dose every other day) extended ambulation by approximately 2 years in treated compared with untreated patients. Deflazacort, a corticosteroid similar in structure to prednisone, produced similar improvement in muscle strength and function with a similar side effect profile. Conclusions: Prednisone has been demonstrated to have a beneficial effect on muscle strength and function in boys with Duchenne dystrophy and should be offered (at a dose of 0.75 mg/kg/day) as treatment. If side effects require a decrease in prednisone, tapering to dosages as low as 0.3 mg/kg/day gives less robust but significant improvement. Deflazacort (0.9 mg/kg/day) can also be used for the treatment of Duchenne dystrophy in countries in which it is available. Benefits and side effects of corticosteroid therapy need to be monitored. The offer of treatment with corticosteroids should include a balanced discussion of potential risks. NEUROLOGY 2005;64:13-20 Duchenne dystrophy (DD), an X-linked, recessive disorder, with onset before age 5 years, is the most common and severe form of childhood muscular dystrophy.1-3 The specific molecular defect is an absence or marked deficiency of dystrophin, a large membrane-associated protein that is part of the dystrophin-glycoprotein complex.1 Affected boys develop neck flexor, anterior abdominal, hip, and shoulder girdle muscle weakness in early childhood, with loss of ambulation between ages 7 and 12. 4,5 Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Death usually occurs in the 20s, with the chance of...

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“…Its treatment remains palliative and relies mainly on steroids and physiotherapy, both in order to slow the loss of motor function [2][3][4] . Several tests have been reported in the literature to assess muscle strength and functional ability, to monitor the progression of the disease, and to evaluate the results of drug interventions and rehabilitation [4][5][6][7][8][9][10][11][12] . However, most instruments involve ambulant patients, making adjustments and/or additional assessments necessary when the disease progresses 8,9 .…”

mentioning

confidence: 99%

Motor function measure scale, steroid therapy and patients with Duchenne muscular dystrophy

Silva

Machado

Resende

et al. 2012

Arq. Neuro-Psiquiatr.

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OBJECTIVE: To assess the evolution of motor function in patients with Duchenne muscular dystrophy (DMD) treated with steroids (prednisolone or deflazacort) through the Motor Function Measure (MFM), which evaluates three dimensions of motor performance (D1, D2, D3). METHODS: Thirty-three patients with DMD (22 ambulant, 6 non-ambulant and 5 who lost the capacity to walk during the period of the study) were assessed using the MFM scale six times over a period of 18 months. RESULTS: All the motor functions remained stable for 14 months in all patients, except D1 for those who lost their walking ability. In ambulant patients, D2 (axial and proximal motor capacities) motor functions improved during six months; an improvement in D3 (distal motor capacity) was noted during the total follow-up. D1 (standing posture and transfers) and total score were useful to predict the loss of the ability to walk. CONCLUSIONS: The use of the MFM in DMD patients confirms the benefits of the steroid treatment for slowing the progression of the disease.

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Clinical investigation in duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history

Cited by 332 publications

References 13 publications

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Practice Parameter: Corticosteroid treatment of Duchenne dystrophy [RETIRED]

Motor function measure scale, steroid therapy and patients with Duchenne muscular dystrophy

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