Background Duchenne and Becker muscular dystrophy are progressive disorders associated with cardiac mortality. Guidelines recommend routine surveillance; we assess cardiac resource use and identify gaps in care delivery. Methods and Results Male patients, aged 1 to 18 years, with Duchenne and Becker muscular dystrophy between January 2013 and December 2017 were identified in the IBM MarketScan Research Database. The cohort was divided into <10 and 10 to 18 years of age. The primary outcome was rate of annual health care resource per person year. Resource use was assessed for place of service, cardiac testing, and medications. Adjusted incidence rate ratios (IRRs) were estimated using a Poisson regression model. Medication use was measured by proportion of days covered. There were 1386 patients with a median follow-up time of 3.0 years (interquartile range, 1.9-4.7 years). Patients in the 10 to 18 years group had only 0.40 (95% CI, 0.35-0.45) cardiology visits per person year and 0.66 (95% CI, 0.62-0.70) echocardiography/magnetic resonance imaging per person year. Older patients had higher rates of inpatient admissions (IRR, 1.46; 95% CI, 1.03-2.09), outpatient cardiology visits (IRR, 2.0; 95% CI, 1.66-2.40), cardiac imaging (IRR, 1.59; 95% CI, 1.40-1.80), and Holter monitoring (IRR, 3.33; 95% CI, 2.35-4.73). A proportion of days covered >80% for angiotensin-converting enzyme inhibitors/angiotensin receptor blockers was observed in 13.6% (419/3083) of total person years among patients in the 10 to 18 years group. Conclusions Children 10 to 18 years of age have higher rates of cardiac resource use compared with those <10 years of age. However, rates in both age groups fall short of guidelines. Opportunities exist to identify barriers to resource use and optimize cardiac care for patients with Duchenne and Becker muscular dystrophy.
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http://dx.doi.org/10.1161/JAHA.121.024722 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.
View Article and Find Full Text PDFNanoscale
January 2025
Department of Chemistry, Federal University of São Paulo (UNIFESP), Diadema, SP, Brazil.
This study aims to use superparamagnetic iron oxide nanoparticles (SPIONs), specifically magnetite (FeO), to deliver deflazacort (DFZ) and ibuprofen (IBU) to Duchenne muscular dystrophy-affected (DMD) mouse muscles using an external magnetic field. The SPIONs are synthesized by the co-precipitation method, and their surfaces are functionalized with L-cysteine to anchor the drugs, considering that the cysteine on the surface of the SPIONs in the solid state dimerizes to form the cystine molecule, creating the FeO-(Cys)-DFZ and FeO-(Cys)-IBU systems for tests. The FeO nanoparticles (NPs) were characterized by Fourier transform infrared spectroscopy (FTIR), Raman spectroscopy, powder X-ray diffraction (PXRD), transmission electron microscopy (TEM), dynamic light scattering (DLS), and magnetic measurements.
View Article and Find Full Text PDFCardiol Young
January 2025
Loma Linda Children's Hospital, Department of Pediatric Cardiology, Loma Linda, CA, USA.
Dilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.
View Article and Find Full Text PDFSci Rep
January 2025
Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Delandistrogene moxeparvovec is an rAAVrh74 vector-based gene transfer therapy that delivers a transgene encoding delandistrogene moxeparvovec micro-dystrophin, an engineered, functional form of dystrophin shown to stabilize or slow disease progression in DMD. It is approved in the US and in other select countries. Two serious adverse event cases of immune-mediated myositis (IMM) were reported in the phase Ib ENDEAVOR trial (NCT04626674).
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