Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands

Bergen, J.C. van den; Ginjaar, H.B.; Essen, A.J. van; Pangalila, Robert; Groot, I. de; Wijkstra, Peter J.; Zijnen, Marianne; Cobben, N.A.M.; Kampelmacher, M. J.; Wokke, B.H.A.; Coo, I.F.M. de; Fock, Johanna M.; Horemans, Anja M.C.; Tol, Marie-José van; Vroom, Elizabeth; Rijlaarsdam, María; Straathof, C.S.M.; Niks, Erik H.; Verschuuren, Jan J.

doi:10.3233/jnd-140005

Cited by 45 publications

(44 citation statements)

References 39 publications

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“…In total, 73% (11 of 15) of included studies were judged to have low risk of bias as measured using the Newcastle-Ottawa Scale (Table 1). Reasons for increased risk of bias included uncertain representativeness due to lack of details concerning confirmation of diagnosis of DMD [18], limited comparability due to inadequate description of ventilatory support [12,13,18], insufficient follow-up (with respect to the distribution of age in the studied patient sample) [26], and caregiver-reported age at death [13].…”

Section: Resultsmentioning

confidence: 99%

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Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

et al. 2020

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Several studies indicate that prognosis for survival in Duchenne muscular dystrophy (DMD) has improved in recent decades. However, published evidence is inconclusive and some estimates may be obsolete due to improvements in standards of care, in particular the routine use of mechanical ventilatory support in advanced stages of the disease. In this systematic review and meta-analysis (PROSPERO identifier: CRD42019121800), we searched MEDLINE (through PubMed), CINAHL, Embase, PsycINFO, and Web of Science for studies published from inception up until December 31, 2018, reporting results of life expectancy in DMD. We pooled median survival estimates from individual studies using the median of medians, and weighted median of medians, methods. Risk of bias was established with the Newcastle-Ottawa Scale. Results were stratified by ventilatory support and risk of bias. We identified 15 publications involving 2662 patients from 12 countries from all inhabited continents except Africa. Median life expectancy without ventilatory support ranged between 14.4 and 27.0 years (pooled median: 19.0 years, 95% CI 18.0-20.9; weighted pooled median: 19.4 years, 18.2-20.1). Median life expectancy with ventilatory support, introduced in most settings in the 1990s, ranged between 21.0 and 39.6 years (pooled median: 29.9 years, 26.5-30.8; weighted pooled median: 31.8 years, 29.3-36.2). Risk of bias had little impact on pooled results. In conclusion, median life expectancy at birth in DMD seems to have improved considerably during the last decades. With current standards of care, many patients with DMD can now expect to live into their fourth decade of life.

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Section: Resultsmentioning

confidence: 99%

“…Reports from several studies indicate that life expectancy at birth in DMD has improved in recent decades [9][10][11][12][13]. However, estimates vary markedly between samples, and, to date, no study has reviewed the body of literature on life expectancy in this indication.…”

Section: Introductionmentioning

confidence: 99%

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

et al. 2020

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“…The LUMC patients were recruited from the Dutch Dystrophinopathy Database. 21 Selected MRI results of this study have been previously reported. 13,22,23 The CCHMC participants were recruited from the international Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy (PRO-DMD-01) that started in 2012.…”

Section: Participants and Study Designmentioning

confidence: 94%

MRI vastus lateralis fat fraction predicts loss of ambulation in Duchenne muscular dystrophy

et al. 2020

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ObjectiveWe studied the potential of quantitative MRI (qMRI) as a surrogate endpoint in Duchenne muscular dystrophy by assessing the additive predictive value of vastus lateralis (VL) fat fraction (FF) to age on loss of ambulation (LoA).MethodsVL FFs were determined on longitudinal Dixon MRI scans from 2 natural history studies in Leiden University Medical Center (LUMC) and Cincinnati Children's Hospital Medical Center (CCHMC). CCHMC included ambulant patients, while LUMC included a mixed ambulant and nonambulant population. We fitted longitudinal VL FF values to a sigmoidal curve using a mixed model with random slope to predict individual trajectories. The additive value of VL FF over age to predict LoA was calculated from a Cox model, yielding a hazard ratio.ResultsEighty-nine MRIs of 19 LUMC and 15 CCHMC patients were included. At similar age, 6-minute walking test distances were smaller and VL FFs were correspondingly higher in LUMC compared to CCHMC patients. Hazard ratio of a percent-point increase in VL FF for the time to LoA was 1.15 for LUMC (95% confidence interval [CI] 1.05–1.26; p = 0.003) and 0.96 for CCHMC (95% CI 0.84–1.10; p = 0.569).ConclusionsThe hazard ratio of 1.15 corresponds to a 4.11-fold increase of the instantaneous risk of LoA in patients with a 10% higher VL FF at any age. Although results should be confirmed in a larger cohort with prospective determination of the clinical endpoint, this added predictive value of VL FF to age on LoA supports the use of qMRI FF as an endpoint or stratification tool in clinical trials.

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“…Twenty boys (8-18 years of age) with a mutation in the DMD gene were recruited from the Dutch Dystrophinopathy Database [21]. Seventeen healthy age-matched boys, without muscle or brain disorders, were recruited from local schools/leisure clubs using flyers.…”

Section: Methodsmentioning

confidence: 99%

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients

Doorenweerd

Hooijmans

Schubert

et al. 2017

JND

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Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands

Cited by 45 publications

References 39 publications

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

MRI vastus lateralis fat fraction predicts loss of ambulation in Duchenne muscular dystrophy

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients

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