Diana Castro

Exposure-response of serum biomarkers to vamorolone, a dissociative corticosteroidal anti-inflammatory drug, in 4- to <7-year children

Swati Mummidivarpu, Utkarsh J. Dang, Michael Ziemba, Yetrib Hathout et autres

OBJECTIVES: Corticosteroid agonists of the glucocorticoid receptor are a mainstay of therapeutics for pro-inflammatory conditions. Vamorolone is a novel partial agonist that is differentiated from the other members of the corticosteroid class by non-metabolism by 11β-hydroxysteroid dehydrogenases, antagonism of the mineralocorticoid receptor, …

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Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients.

Fatemeh Ahmadi-Harchegani, Rebecca Tobin, C. Degan, Michela Guglieri et autres

Blood-accessible biomarkers offer promising insights into the pathogenesis of Duchenne muscular dystrophy (DMD) and other muscle diseases. Here, we quantified the relative abundance of 7,289 serum proteins using SomaScan proteomics in pre-treatment samples from 51 boys with DMD (aged 4 to <7) …

ca, nl, us, gb, se, be, cz, au, it, il, es, gr, ch, de (code pays fourni par la source)

Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration

Katlyn Elizabeth McGrattan, Alicia Hofelich Mohr, Anna Miles, Juliet Ochura et autres

BACKGROUND: Spinal muscular atrophy causes progressive motor neuron degeneration that impedes an infant's ability to maintain full oral nutrition and manage secretions. Development of pharmaceuticals that halt neuromuscular degeneration have enabled survival and improvement in motor function, with infants who receive treatment …

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Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series

Nancy L. Kuntz, Carmen Leon‐Astudillo, Barry J. Byrne, Jena M. Krueger et autres

BACKGROUND: Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival of motor neuron (SMN) 1 gene resulting in progressive motor function loss, and additional disease-related complications, including dysphagia and respiratory failure. With three US FDA-approved disease-modifying therapies (DMTs) …

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Contributors

Gregory Scott Aaen, Nicholas Scott Abend, Laura Ann Adang, Amina Ismail Ahmed et autres

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Channelopathies: Myotonic Disorders and Periodic Paralysis

Diana Castro

Ancient dog introgression into the Iberian wolf genome may have facilitated adaptation to human-dominated landscapes

Diana Lobo, Hernán E. Morales, Cock van Oosterhout, José Vicente López‐Bao et autres

Understanding how large carnivores respond to increasingly human-dominated landscapes will determine their future adaptive potential. The Iberian wolf (Canis lupus signatus), a gray wolf subspecies endemic to the Iberian Peninsula (Portugal and Spain), has uniquely persisted in human-dominated landscapes, unlike many other …

pt, dk, gb, es, us, no, Afrique du Sud (code pays fourni par la source)

Transition of patients with Duchenne muscular dystrophy from paediatric to adult care: An international Delphi consensus study

Diana Castro, Thomas Sejersen, Luca Bello, Filippo Buccella et autres

BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder characterized by a progressive decline in muscle function, leading to loss of ambulation, respiratory and cardiac failure, and ultimately death. Improvements in DMD management have increased patient life expectancy; therefore, there is …

se, fr, it, au, mx, nl, us, ch, gb, br, de, be, ca, Afrique du Sud (code pays fourni par la source)

Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset

Katlyn Elizabeth McGrattan, Robert J. Graham, Alicia Hofelich Mohr, Anna Miles et autres

BACKGROUND: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder that in its most severe form, causes profound swallowing deficits. There remains a paucity of research systematically elucidating the biomechanical and functional correlates. This void limits the ability to evaluate the effects …

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Inflammatory Neuropathy Consortium base (INCbase): a protocol of a global prospective observational cohort study for the development of a prediction model for treatment response in chronic inflammatory demyelinating polyneuropathy

Milou R. Michael, Luuk Wieske, Jeffrey A. Allen, Michael Peter Lunn et autres

BACKGROUND: INCbase is an international, multicenter prospective observational study using a customizable web-based modular registry to study the clinical, biological and electrophysiological variation and boundaries of chronic inflammatory demyelinating polyneuropathy (CIDP). The primary objective of INCbase is to develop and validate a …

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Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J

Reza Sadjadi, Vincent Picher‐Martel, Jasper M. Morrow, Daniel R. Thedens et autres

BACKGROUND AND OBJECTIVES: ) gene. Recent preclinical work has demonstrated the feasibility of adeno-associated virus serotype 9-FIG4 gene therapy. This study aimed to further characterize the CMT4J phenotype and evaluate feasibility of validated CMT-related outcome measures for future clinical trials. METHODS: gene. …

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Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians

Aravindhan Veerapandiyan, Anne M. Connolly, Katherine D. Mathews, Stanley F. Nelson et autres

Duchenne muscular dystrophy (DMD) is a rare, X-linked, progressive, degenerative muscle disease due to pathogenic variants in the DMD gene resulting in absence of functional dystrophin protein.1 Patients with DMD have irreversible muscle damage that begins at birth, and there is histologic …

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