Identifying Non–Duchenne Muscular Dystrophy–Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs

Gatheridge, Michele A.; Kwon, Jennifer M.; Mendell, J.; Scheuerbrandt, Günter; Moat, Stuart; Eyskens, François; Rockman‐Greenberg, Cheryl; Drousiotou, Anthi; Griggs, Robert C.

doi:10.1001/jamaneurol.2015.3537

Cited by 53 publications

(44 citation statements)

References 32 publications

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“…It remains to be established whether patients with EBS-PA would also develop MD that might have been missed in other cases, since almost all reported patients with EBS-PA died during the first months of life, and the MD is initially asymptomatic and slowly progressing. Our patient had elevated CK levels on the 5 th day of life, a screening marker in a variety of congenital muscular dystrophies (12). The connection of acute illness-associated weakness with high levels of CK (>10× normal) and then lower, but persistent elevation of CK has been described in young patients with congenital muscular dystrophies (13).…”

Section: Discussionsupporting

confidence: 50%

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Valari

Theodoraki²,

Loukas³

et al. 2019

Acta Derm Venereol

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Section: Discussionsupporting

confidence: 50%

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Valari

Theodoraki²,

Loukas³

et al. 2019

Acta Derm Venereol

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“…Antisense therapy is an approach to fighting genetic disorders or infections using short DNA-like molecules called antisense oligonucleotides (AOs). Duchenne muscular dystrophy (DMD) is an X-linked, lethal neuromuscular disorder caused by mutations in the dystrophin gene affecting 1 in approximately 5000 males at birth [1]. It is the most common childhood form of muscular dystrophy (MD) and around 50% of all MD cases, and the patients usually die in their late 20s [2,3].…”

Section: Introductionmentioning

confidence: 99%

Triazine-cored polymeric vectors for antisense oligonucleotide delivery in vitro and in vivo

Wang¹,

Wu²,

Tucker³

et al. 2020

J Nanobiotechnol

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Background: The polymer-based drug/gene delivery is promising for the treatment of inherent or acquire disease, because of the polymer's structural flexibility, larger capacity for therapeutic agent, low host immunogenicity and less cost. Antisense therapy is an approach to fighting genetic disorders or infections using antisense oligonucleotides (AOs). Unfortunately, the naked AOs showed low therapeutic efficacy in vivo and in clinical trial due to their poor cellular uptake and fast clearance in bloodstream. In this study, a series of triazine-cored amphiphilic polymers (TAPs) were investigated for their potential to enhance delivery of AOs, 2′-O-methyl phosphorothioate RNA (2′-OMePS) and phosphorodiamidate morpholino oligomer (PMO) both in vitro and in vivo. Results:TAPs significantly enhanced AO-induced exon-skipping in a GFP reporter-based myoblast and myotube culture system, and observed cytotoxicity of the TAPs were lower than Endoporter, Lipofectamine-2000 or PEI 25K. Application of optimized formulations of TAPs with AO targeted to dystrophin exon 23 demonstrated a significant increase in exon-skipping efficiency in dystrophic mdx mice. The best ones for PMO and 2′-OMePS delivery have reached to 11-, 15-fold compared with the AO only in mdx mice, respectively. Conclusion:The study of triazine-cored amphiphilic polymers for AO delivery in vitro and in mdx mice indicated that the carrier's performances are related to the molecular size, compositions and hydrophilic-lipophilic balance (HLB) of the polymers, as well as the AO's structure. Improved exon-skipping efficiency of AOs observed in vitro and in mdx mice accompanied with low cytotoxicity demonstrated TAP polymers are potentials as safe and effective delivery carrier for gene/drug delivery.

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“…To avoid diagnostic delay, earlier creatine kinase (CK) testing in primary care is emphasized, because of its cost-effectiveness, ready availability, and high sensitivity and specificity [6,8]. In addition, newborn screening for DMD has been piloted in a number of centers in the world, especially in western countries [14]; however, screening newborns for conditions for which limited treatment options exist is controversial due to concerns about the impact a positive screening result may have on the parent-child relationship [15].…”

Section: Introductionmentioning

confidence: 99%

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis

Takeuchi

Komaki²,

Yamagata

et al. 2017

Neuromuscular Disorders

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Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United Kingdom, 10; Germany, 18; Hungary, 6; Poland, 5; and the Czech Republic, 6) aged <5 years and diagnosed at ≤2 years old among the participants of the cross-sectional study about care practice in DMD. A combination of elevated serum creatine kinase and genetic testing usually led to the diagnosis (n = 31, 48%); 41 boys visited neuromuscular clinics more than once a year. Early diagnosis did not generally result in higher satisfaction among DMD families, and country-specific differences were observed. Psychosocial support following early diagnosis was perceived as insufficient in most countries, and deficits in access and uptake of genetic counselling resulted in lower satisfaction in the Japanese cohort. In conclusion, seamless and comprehensive support for DMD families following early diagnosis at presymptomatic stages should be taken into consideration if early genetic testing or newborn screening is made available more widely.

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Identifying Non–Duchenne Muscular Dystrophy–Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs

Cited by 53 publications

References 32 publications

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Triazine-cored polymeric vectors for antisense oligonucleotide delivery in vitro and in vivo

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis

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