Characterizing the Occurrence of Key Clinical Milestones in Duchenne Muscular Dystrophy in the United States Using Real-World Data

Szabo, Shelagh M.; Klimchak, Alexa C.; Qian, Christina; Iannaccone, Susan T.; Popoff, Evan; Gooch, Katherine

doi:10.3233/jnd-220816

Cited by 4 publications

(5 citation statements)

References 39 publications

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“…Consistent with previous findings from analyses among commercially insured patients with DMD in the USA [ 12 ], the results of the primary (non-age-restricted) analyses reported slightly older median ages at the first observation of key clinical outcomes, compared with published estimates from clinical studies [ 4 – 8 ]. This suggests that the first observation for individual clinical outcomes in a cut of administrative health insurance claims data may not necessarily reflect an initial diagnosis of that milestone, but instead reflects the first captured event within the dataset.…”

Section: Discussionsupporting

confidence: 86%

“…The strengths of the study stem from the use of a well-validated dataset that provided a large sample size of patients with DMD, including children and adults over an average follow-up period of 3 years. The algorithm to identify the cohort was previously used in similar studies to understand clinical outcomes [ 12 , 13 , 25 , 26 ]. In addition, this study offers insights into the prevalence of key DMD outcomes observed among patients covered by Medicaid.…”

Section: Discussionmentioning

confidence: 99%

“…Additional limitations include that there may be misclassification due to coding error as these data are collected for reimbursement not research, and clinical data to validate patient characteristics and outcomes are not available. For instance, while the patient identification algorithm was based on previously published studies [ 12 , 13 , 25 , 26 ], it has not been clinically validated and may result in misclassification of patients with other types of muscular dystrophy as DMD. In particular, as a result of the shared use of the ICD-10-CM code of G71.01 for DMD/BMD, the risk of including patients with BMD within the DMD cohort may be higher than for other types of muscular dystrophy.…”

Section: Discussionmentioning

confidence: 99%

“…Analytic methods were also previously described [ 12 ]. In brief, the primary analysis summarized the occurrence of key clinical outcomes by tallying the proportion of patients who experienced each key clinical outcome, and the median age at first observation.…”

Section: Methodsmentioning

confidence: 99%

“…The prevalence of selected clinical outcomes among commercially insured patients with DMD was documented in a recent real-world study using health insurance claims data based on healthcare resource use data from MarketScan [ 12 ]. However, these findings may have limited generalizability to populations with other insurance coverage, and updated USA-specific estimates are needed.…”

Section: Introductionmentioning

confidence: 99%

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

Qian,

Klimchak,

Szabo

et al. 2024

Adv Ther

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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.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Qian,

Klimchak,

Szabo

et al. 2024

Adv Ther

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Current Challenges of Using Patient-Level Claims and Electronic Health Record Data for the Longitudinal Evaluation of Duchenne Muscular Dystrophy Outcomes

Gooch,

Audhya,

Ricchetti-Masterson

et al. 2024

Adv Ther

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Introduction:Insurance claims data and electronic health records (EHRs) have been used to characterize Duchenne muscular dystrophy (DMD) in real-world populations. The ability to assess patient-level DMD disease progression within insurance claims or EHR data infrastructures is unknown. Insurance claims and EHR data were comprehensively examined for availability and reliability of DMD outcomes that describe functional status and disease progression at the individual patient level over time. Methods: MarketScan Commercial and Medicaid claims, and EHR-linked Clarivate open claims datasets were examined for data measuring 54 previously identified DMD-relevant outcomes in patients with DMD. Each outcome was assigned to one of five categories: functional

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Febuxostat ameliorates muscle degeneration and movement disorder of the dystrophin mutant model in Caenorhabditis elegans

Yoshina,

Izuhara,

Mashima

et al. 2023

J Physiol Sci

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Duchenne muscular dystrophy (DMD) is an inherited disorder with mutations in the dystrophin gene characterized by progressive muscle degeneration and weakness. Therapy such as administration of glucocorticoids, exon skipping of mutant genes and introduction of dystrophin mini-genes have been tried, but there is no radical therapy for DMD. In this study, we used C. elegans carrying mutations in the dys-1 gene as a model of DMD to examine the effects of febuxostat (FBX). We applied FBX to dys-1 mutant animals harboring a marker for muscle nuclei and mitochondria, and found that FBX ameliorates the muscle loss. We next used a severer model dys-1; unc-22 double mutant and found the dys-1 mutation causes a weakened muscle contraction. We applied FBX and other compounds to the double mutant animals and assayed the movement. We found that the administration of FBX in combination of uric acid has the best effects on the DMD model.

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Characterizing the Occurrence of Key Clinical Milestones in Duchenne Muscular Dystrophy in the United States Using Real-World Data

Cited by 4 publications

References 39 publications

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

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

Current Challenges of Using Patient-Level Claims and Electronic Health Record Data for the Longitudinal Evaluation of Duchenne Muscular Dystrophy Outcomes

Febuxostat ameliorates muscle degeneration and movement disorder of the dystrophin mutant model in Caenorhabditis elegans

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