Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011

Kiény, P.; Chollet, S.; Delalande, P.; Fort, M. Le; Magot, Armelle; Péreón, Yann; Verbe, B. Perrouin

doi:10.1016/j.rehab.2013.06.002

Cited by 155 publications

(112 citation statements)

References 25 publications

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“…In addition, loss of ambulation is a crucial disease milestone that carries significant emotional as well as physical and practical implications for patients and families, marking a transition to progressively decreasing independence and increasing need for assistance with activities of daily living 36, 37, 38, 39…”

Section: Discussionmentioning

confidence: 99%

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

Mendell

Goemans²,

Lowes

et al. 2016

Annals of Neurology

451

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%

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

Mendell

Goemans²,

Lowes

et al. 2016

Annals of Neurology

451

392

View full text Add to dashboard Cite

show abstract

“…Muscular dystrophies are among the most common single gene disorders with DMD being the most frequent form affecting 1 of 3500 to 6000 newborn males. Average life expectancy in DMD patients has shifted from adolescence in the 70s of last century to third and fourth decade of life, with some patients surviving now even in their forties [3,4,32], mainly because of improved supportive treatment of cardiac, respiratory and orthopedic complications [5,6]. As a reference center for DMD we were alarmed by few recent publications suggesting that renal function might be compromised by this disorder [8][9][10].…”

Section: Discussionmentioning

confidence: 99%

Renal function in children and adolescents with Duchenne muscular dystrophy

Braat

Hoste

Waele

et al. 2015

Neuromuscular Disorders

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Improved life expectancy and the need for robust tools to monitor renal safety of emerging new therapies have fueled the interest in renal function in Duchenne muscular dystrophy (DMD) patients. We aimed to establish a methodology to accurately assess their renal function. Twenty DMD patients (5-22 years) were included in this prospective study. After obtaining medical history, all patients underwent a clinical examination, 24-hour ambulatory blood pressure monitoring, ultrasound of the kidneys, direct GFR measurement ( 51 Cr-EDTA, mGFR), complete blood and urine analysis. Seventeen of 20 patients were treated with corticosteroids and 5/20 with angiotensin converting enzyme inhibitor (lisinopril). No patient suffered from urinary tract infections or other renal diseases. Hypertension (systolic or diastolic blood pressure >P95) was found in 9/20 patients (8/9 patients were on steroid treatment) and a non-dipping blood pressure profile in 13/20 subjects (10/13 patients were on steroid treatment). Urinary protein to creatinine ratio was elevated in 17/18 patients, whereas 24-hour urine protein excretion was normal in all subjects. Median interquartile range (IQR) mGFR was 130.4 (29.1) mL/min/1.73 m 2 . Hyperfiltration (mGFR >150 mL/min/1.73 m 2 ) was found in 5/20 patients. Inverse correlation between mGFR and age was observed (R 2 = 0.45, p = 0.001). Serum creatinine based estimated GFR (eGFR) equations overestimated mGFR up to 300%. eGFR based on cystatin C Filler equation was closest to the mGFR (median eGFR (IQR) of 129.5 (39.7) mL/min/1.73 m 2 ). Our study demonstrates a high prevalence of hyperfiltration and hypertension in children and adolescents with DMD. Because the majority of hypertensive patients were under corticosteroid treatment, the iatrogenic cause of hypertension cannot be excluded. Serum or urine creatinine measurements are of no value to evaluate renal function in DMD patients due to the reduced skeletal muscle mass.

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“…DMD is a rare disease that has a pooled prevalence of 4.8 per 100,000 males and an incidence ranging from 10.7 to 27.8 per 100,000. DMD is a rapidly progressive form of muscular dystrophy, causing increasing loss of muscle function and weakness [25][26][27]. Cavazza et al [28] estimated an average annual cost per patient with DMD that ranged from €7657 in Hungary to €58,704 in France.…”

mentioning

confidence: 99%

Social/economic costs and health-related quality of life in patients with rare diseases in Europe

et al. 2016

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Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011

Abstract: Ventilator assistance, in this study mostly through tracheotomy prolongs by more than 15 years life expectancy of DMD patients. It allows conservation of a satisfactory quality of life, and should be systematically proposed to patients.

Cited by 155 publications

References 25 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

Renal function in children and adolescents with Duchenne muscular dystrophy

Social/economic costs and health-related quality of life in patients with rare diseases in Europe

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