Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia

Atehortúa, Sara; Lugo, Luz Helena; Ceballos, Mateo; Orozco, Esteban; Castro, Paula; Arango, Juan Carlos; Mateus, Heidi

doi:10.1016/j.vhri.2017.10.003

Cited by 4 publications

(2 citation statements)

References 37 publications

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“…Rapid direct DNA sequencing holds the power to detect Dystrophin gene mutations in 70% of patients who did not have exonic alterations [ 85 ]. However, immunoblot analysis is a rapid and cost-effective alternative for detecting dystrophin alterations in dystrophinopathies [ 150 , 151 , 152 , 153 ]. The development of next-generation sequencing technology has revolutionized the diagnosis of neuromuscular disorders [ 154 ].…”

Section: Discussionmentioning

confidence: 99%

Advances in Dystrophinopathy Diagnosis and Therapy

Saad,

Siciliano,

Angelini

2023

Biomolecules

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Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy. However, Duchenne muscular dystrophy interconnects with bone loss and osteoporosis, which are exacerbated by glucocorticoids therapy. Procedures for diagnosing dystrophinopathies include creatine kinase assay, haplotype analysis, Southern blot analysis, immunological analysis, multiplex PCR, multiplex ligation-dependent probe amplification, Sanger DNA sequencing, and next generation DNA sequencing. Pharmacological therapy for dystrophinopathies comprises glucocorticoids (prednisone, prednisolone, and deflazacort), vamorolone, and ataluren. However, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and β-blockers are the first-line to prevent dilated cardiomyopathy in dystrophinopathy patients. Duchenne muscular dystrophy gene therapy strategies involve gene transfer, exon skipping, exon reframing, and CRISPR gene editing. Eteplirsen, an antisense-oligonucleotide drug for skipping exon 51 from the Dystrophin gene, is available on the market, which may help up to 14% of Duchenne muscular dystrophy patients. There are various FDA-approved exon skipping drugs including ExonDys-51 for exon 51, VyonDys-53 and Viltolarsen for exon 53 and AmonDys-45 for exon 45 skipping. Other antisense oligonucleotide drugs in the pipeline include casimersen for exon 45, suvodirsen for exon 51, and golodirsen for exon 53 skipping. Advances in the diagnosis and therapy of dystrophinopathies offer new perspectives for their early discovery and care.

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Section: Discussionmentioning

confidence: 99%

Advances in Dystrophinopathy Diagnosis and Therapy

Saad,

Siciliano,

Angelini

2023

Biomolecules

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“…Our results corroborate the findings of previous studies that families of people with DMD face substantial indirect medical and non-medical costs, including income loss. 1,2,5,6,[9][10][11][12][13][14][15][16][17]19,[37][38][39][40][41] The labor market productivity cost estimates from the multivariate models were especially revealing. The $ where that child required 16-24 h of care relative to households where no informal care was required.…”

Section: Discussionmentioning

confidence: 99%

Labor market participation and productivity costs for female caregivers of minor male children with Duchenne and Becker muscular dystrophies

et al. 2021

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Introduction/Aims: Duchenne and Becker muscular dystrophies (DBMD) are X-linked neuromuscular disorders characterized by progressive muscle weakness, leading to decreased mobility and multisystem complications. We estimate productivity costs attributable to time spent by a parent caring for a male child under the age of 18 y with DBMD, with particular focus on female caregivers of boys with Duchenne muscular dystrophy (DMD) who have already lost ambulation. Methods: Primary caregivers of males with DBMD in the Muscular Dystrophy Surveillance and Research Tracking Network (MD STARnet) were surveyed during 2011-2012 on family quality of life measures, including labor market outcomes. Of 211 respondents, 96 female caregivers of boys with DBMD were matched on state, year of survey, respondent's age, child's age, and number of minor children with controls constructed from Current Population Survey extracts. Regression analysis was used to estimate labor market outcomes and productivity costs. Results: Caregivers of boys with DBMD worked 296 h less per year on average than caregivers of unaffected children, translating to a $8816 earnings loss in 2020 U.S. dollars. Caregivers of boys with DMD with ≥4 y of ambulation loss had a predicted loss in annualized earnings of $23,995, whereas caregivers of boys with DBMD of the same ages who remained ambulatory had no loss of earnings. Discussion: Female caregivers of non-ambulatory boys with DMD face additional household budget constraints through income loss. Failure to include informal care costs in economic studies could understate the societal cost-effectiveness of strategies for managing DMD that might prolong ambulation.

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Runt-Related Transcription Factor 2 (Runx2) Measurement in Phytoestrogen-Induced Bone: A Comparison of Western Blot and Immunohistochemistry Methods

Ma’arif

Sholihah

Mahardiani

et al. 2022

Biomed. Pharmacol. J.

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Estrogen deficiency can contribute to osteoporosis in postmenopausal women. Phytoestrogens are becoming more widely recognized as potential estrogen replacement therapy. The administration of phytoestrogens can cause bone formation, which is marked by an increase in Runx2 expression in osteoblast cells and can be seen using western blot and immunohistochemistry approaches. This review aimed to compare the detection methods of Runx2 in phytoestrogen-induced bone tissue using western blots and immunohistochemistry. Selectivity, sensitivity, processing time, and cost-effectiveness were the parameters that were compared. This review was done by identifying articles in several databases (Google Scholar, PubMed, and Science Direct). The process of selecting the articles used the PRISMA guidelines to create a flowchart with inclusion and exclusion study criteria. Meta-synthesis was done to analyze, identify, and interpret all of the data in the articles systematically. 70 articles in total were obtained from the selection process, with 21 articles being relevant to the topic. The result shows that the selectivity and sensitivity of western blot for detecting Runx2 on tissue were 93.5–100%, respectively, whereas immunohistochemistry selectivity and sensitivity were 45–99.5%, respectively. Compared to immunohistochemistry, western blot can save up to 57.26%. Immunohistochemistry takes 46 hours to process, while Western blot takes 25 hours and 20 minutes. In comparison to immunohistochemistry, the western blot is more selective, sensitive, rapid and affordable for detecting Runx2 in bone tissue.

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Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia

Cited by 4 publications

References 37 publications

Advances in Dystrophinopathy Diagnosis and Therapy

Advances in Dystrophinopathy Diagnosis and Therapy

Labor market participation and productivity costs for female caregivers of minor male children with Duchenne and Becker muscular dystrophies

Runt-Related Transcription Factor 2 (Runx2) Measurement in Phytoestrogen-Induced Bone: A Comparison of Western Blot and Immunohistochemistry Methods

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