Impact of Genotype on Boys with Duchenne Muscular Dystrophy

Gambetta, Katheryn; Wittlieb-Weber, Carol A.; Bock, M.J.; Villa, Chet; Johnson, Jonathan N.; Lal, Ashwin K.; Schumacher, K.; Law, Sabrina; Deshpande, Sohan; West, Shawn C.; Friedland-Little, J.M.; Lytrivi, Irene D.; Butts, Ryan J.; Cunningham, Chentel; Knecht, Kenneth R.; McCullough, Michael

doi:10.1016/j.healun.2018.01.290

Cited by 4 publications

(11 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The percentage of patients requiring ventilation tended to increase over time, with variability in estimates observed due to type of ventilation (Fig. 3d) [30,33,35]. By 20 years of age, 27.2% (n = 88) of mixed corticosteroid use patients in a multicenter chart review required 'any ventilation' [33].…”

Section: Pulmonary Function and Need For Ventilatory Supportmentioning

confidence: 96%

“…Six studies reported on the mean age at [20][21][22][23][24][25], 10 studies on median age at [26][27][28][29][30][31][32][33][34][35], and 13 studies on the percentage experiencing LOA (Table 2) [20, 22-25, 28-31, 33, 34, 36, 37]. Two studies provided subgroup-specific estimates [21,31].…”

Section: Loss Of Ambulationmentioning

confidence: 99%

“…Thirteen estimates from ten studies described median age at LOA (Fig. 2b) [26][27][28][29][30][31][32][33][34][35]. Estimates from 7 studies of corticosteroid-treated samples ranged from 12.0 (11.3-14.0) years (in 63 patients from CINRG) [29] to 16.0 (NR) years (in 765 patients from the Duchenne Registry) [26].…”

Section: Loss Of Ambulationmentioning

confidence: 99%

“…Four studies reported the mean or median age at ventilation [33,35,39,40], 3 studies reported the percentage needing ventilation by age [30,33,35], 4 studies reported the age at transitioning to key pulmonary functional milestones [30,[41][42][43], and 2 studies reported pulmonary function over time (Table 2) [42,43].…”

Section: Pulmonary Function and Need For Ventilatory Supportmentioning

confidence: 99%

“…In terms of age at need for ventilation, one multicenter chart review of 324 mixed corticosteroid-treated DMD patients reported a median age at 'any ventilation' of 15 years (Fig. 3c) [33]. Three studies reported the age at NIV to range from a median (IQR) age of 18.0 (9.4-26.8) years (in 47.6% of 208 mixed corticosteroidtreated patients on nasal NIV from MD STARnet) [35], to a mean of 22.3 (4.7) years (in 39.3% of 275 likely-corticosteroid-treated patients receiving continuous NIV in a single-center chart review) [39].…”

Section: Pulmonary Function and Need For Ventilatory Supportmentioning

confidence: 99%

See 4 more Smart Citations

The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

Szabo¹,

Salhany

Deighton³

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Duchenne muscular dystrophy (DMD) is a severe rare progressive inherited neuromuscular disorder, leading to loss of ambulation (LOA) and premature mortality. The standard of care for patients with DMD has been treatment with corticosteroids for the past decade; however a synthesis of contemporary data describing the clinical course of DMD is lacking. The objective was to summarize age at key clinical milestones (loss of ambulation, scoliosis, ventilation, cardiomyopathy, and mortality) in the corticosteroid-treatment-era. Methods A systematic review was conducted using MEDLINE and EMBASE. The percentage experiencing key clinical milestones, and the mean or median age at those milestones, was synthesized from studies from North American populations, published between 2007 and 2018. Results From 5637 abstracts, 29 studies were included. Estimates of the percentage experiencing key clinical milestones, and age at those milestones, showed heterogeneity. Up to 30% of patients lost ambulation by age 10 years, and up to 90% by 15 years of age. The mean age at scoliosis onset was approximately 14 years. Ventilatory support began from 15 to 18 years, and up to half of patients required ventilation by 20 years of age. Registry-based estimates suggest that 70% had evidence of cardiomyopathy by 15 years and almost all by 20 years of age. Finally, mortality rates up to 16% by age 20 years were reported; among those surviving to adulthood mortality was up to 60% by age 30 years. Conclusions Contemporary natural history studies from North America report that LOA on average occurs in the early teens, need for ventilation and cardiomyopathy in the late teens, and death in the third or fourth decade of life. Variability in rates may be due to differences in study design, treatment with corticosteroids or other disease-modifying agents, variations in clinical practices, and dystrophin mutations. Despite challenges in synthesizing estimates, these findings help characterize disease progression among contemporary North American DMD patients.

show abstract

Section: Pulmonary Function and Need For Ventilatory Supportmentioning

confidence: 96%

Section: Loss Of Ambulationmentioning

confidence: 99%

Section: Loss Of Ambulationmentioning

confidence: 99%

Section: Pulmonary Function and Need For Ventilatory Supportmentioning

confidence: 99%

Section: Pulmonary Function and Need For Ventilatory Supportmentioning

confidence: 99%

See 3 more Smart Citations

The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

Szabo¹,

Salhany

Deighton³

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

Cardiac Phenotype–Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review

Zhou

Mao

et al. 2020

Pediatr Cardiol

View full text Add to dashboard Cite

Observing the Clinical Course of Duchenne Muscular Dystrophy in Medicaid Real-World Healthcare Data

Qian,

Klimchak,

Szabo

et al. 2024

Adv Ther

View full text Add to dashboard Cite

Introduction Duchenne muscular dystrophy (DMD) is a rare, severe progressive neuromuscular disease. Health insurance claims allow characterization of population-level real-world outcomes, based on observed healthcare resource use. An analysis of data specific to those with Medicaid insurance is presently unavailable. The objective was to describe the real-world clinical course of DMD based on claims data from Medicaid-insured individuals in the USA. Methods Individuals with DMD were identified from the MarketScan Multi-State Medicaid datasets (2013–2018). Diagnosis and procedure codes from healthcare claims were used to characterize the occurrence of DMD-relevant clinical observations; categories were scoliosis, cardiovascular-related, respiratory and severe respiratory-related, and neurologic/neuropsychiatric. Age-restricted analyses were conducted to focus on the ages at which DMD-relevant clinical observations were more likely to be captured, and to better understand the impact of both age and follow-up time. Results Of 2007 patients with DMD identified, median (interquartile range) age at index was 14 (9–20) years, and median follow-up was 3.1 (1.6–4.7) years. Neurologic and neuropsychiatric observations were most frequently identified, among 49.3% of the cohort; followed by cardiovascular (48.5%), respiratory (38.1%), scoliosis (36.3%), and severe respiratory (25.0%). Prevalence estimates for each category were higher when analyzed within age-restricted subgroups; and increased as follow-up time increased. Conclusions This study is the first to use diagnosis and procedure codes from real-world Medicaid claims to document the clinical course in DMD. Findings were consistent with previously published estimates from commercially insured populations and clinical registries; and contribute to the expanding body of real-world evidence around clinical progression of patients with DMD. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-024-02865-2.

show abstract

Impact of Genotype on Boys with Duchenne Muscular Dystrophy

Cited by 4 publications

References 0 publications

The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

Cardiac Phenotype–Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review

Observing the Clinical Course of Duchenne Muscular Dystrophy in Medicaid Real-World Healthcare Data

Contact Info

Product

Resources

About