Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

Araújo, Alexandra Prüfer de Queiroz Campos; Saute, Jonas Alex Morales; Fortes, Clarisse Pereira Dias Drumond; França, Marcondes C.; Pereira, Jaqueline Almeida; Albuquerque, Marco Antônio Veloso; Carvalho, Alzira Alves de Siqueira; Cavalcanti, Eduardo Boiteux Uchôa; Covaleski, Anna Paula Paranhos Miranda; Fagondes, Simone Chaves; Gurgel-Giannetti, Juliana; Gonçalves, Marcus Vinícius Magno; Martinez, Alberto Rolim Muro; Neto, Antônio Rodrigues Coimbra; Neves, Flavio Reis; Nucci, Anamarli; Nucera, Ana Paula Cassetta dos Santos; Pessoa, André Luiz Santos; Rebel, Marcos Ferreira; Santos, Flávia N.; Scola, Rosana Hermínia; Sobreira, Cláudia Ferreira da Rosa

doi:10.1055/s-0043-1761466

Cited by 3 publications

(2 citation statements)

References 83 publications

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“…Nonetheless, a multidisciplinary approach targeting the symptoms of DMD can change the natural course of the disease. Glucocorticosteroids, such as deflazacort or prednisone, are the current standard of care treatment for DMD patients (Araujo 2023). 84 Genetic therapies that act by regulating the expression of DMD or administering a transcript capable of encoding a smaller but still functional dystrophin have been the most promising therapies.…”

Section: Gene-based Therapies For Duchenne Muscular Dystrophymentioning

confidence: 99%

Gene-based therapies for neuromuscular disorders

Zanoteli,

França,

Marques

2024

Arq Neuropsiquiatr

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Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the implementation of therapies aimed at gene regulation. Among these therapies, gene replacement, small interfering RNA (siRNA), and antisense antinucleotides are the most promising approaches. More importantly, some of these therapies have already gained regulatory approval or are in the final stages of approval. The review focuses on motor neuron diseases, neuropathies, and Duchenne muscular dystrophy, summarizing the most recent developments in gene-based therapies for these conditions.

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Section: Gene-based Therapies For Duchenne Muscular Dystrophymentioning

confidence: 99%

Gene-based therapies for neuromuscular disorders

Zanoteli,

França,

Marques

2024

Arq Neuropsiquiatr

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“…Given the limitations of the studies reviewed, such as confounding by indication, small sample size, and lack of longitudinal follow-up, the authors concluded that the optimal timing of clinical interventions, including glucocorticoids and ataluren, in DMD is still unknown and that further research is needed [ 166 ]. Expert recommendations slightly differ, yet generally lean toward advocating steroid trials for children aged 2 to 5 [ 174–177 ]. Notably, in June this year, delandistrogene moxeparvovec-rokl (SRP-9001) gained FDA approval to treat ambulatory pediatric patients aged 4 to 5 with certain DMD gene mutations.…”

Section: Neuromuscular Diseases With Evidence Supporting Benefits Of ...mentioning

confidence: 99%

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Mackels,

Servais

2024

JND

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There has been tremendous progress in treatment of neuromuscular diseases over the last 20 years, which has transformed the natural history of these severely debilitating conditions. Although the factors that determine the response to therapy are many and in some instance remain to be fully elucidated, early treatment clearly has a major impact on patient outcomes across a number of inherited neuromuscular conditions. To improve patient care and outcomes, clinicians should be aware of neuromuscular conditions that require prompt treatment initiation. This review describes data that underscore the importance of early treatment of children with inherited neuromuscular conditions with an emphasis on data resulting from newborn screening efforts.

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Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments

Braga,

Lima,

Mariano

et al. 2023

Brain Sciences

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Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies. We describe the spectrum of pathogenic DMD variants in a single center in northeast Brazil. This is an observational, cross-sectional study carried out through molecular-genetic analysis of male patients diagnosed with dystrophinopathies using Multiplex Ligation-dependent Probe Amplification (MLPA) followed by Next-Generation Sequencing (NGS)-based strategies. A total of 94 male patients were evaluated. Deletions (43.6%) and duplications (10.6%) were the most recurring patterns of pathogenic variants. However, small variants were present in 47.1% of patients, most of them nonsense variants (27.6%). This is the largest South American single-center case series of dystrophinopathies to date. We found a higher frequency of treatment-amenable nonsense single-nucleotide variants than most previous studies. These findings may have implications for diagnostic strategies in less-known populations, as a higher frequency of nonsense variants may mean a higher possibility of treating patients with disease-modifying drugs.

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Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

Cited by 3 publications

References 83 publications

Gene-based therapies for neuromuscular disorders

Gene-based therapies for neuromuscular disorders

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments

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