Glenn A. Walter

Feasibility and efficacy of personalized cardiorespiratory and strength exercise in Duchenne muscular dystrophy: a pilot study

Meghana Bomma, Donovan J. Lott, Sean C. Forbes, Victoria Del Toro et autres

ABSTRACT Background Duchenne muscular dystrophy (DMD) results from absence of dystrophin, causing sarcolemmal instability, progressive muscle and mitochondrial dysfunction and reduced cardiorespiratory fitness and bone density. Exercise may target these multisystem abnormalities but remains underutilized due to historical safety concerns and lack …

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Large-scale serum protein biomarkers discovery associated with function and clinical milestones in Duchenne muscular dystrophy

Nadine A. Ikelaar, A. M. Barnard, Simon Eng, S. Hosseini Vajargah et autres

Duchenne muscular dystrophy (DMD) is characterized by progressive muscle wasting and weakness. Serum proteins may offer insight into disease processes and clinical decline. This observational study uses the 7 K SomaScan® assay to discover serum proteins associated with muscle function and disease …

nl, us (code pays fourni par la source)

Metabolic effects of micro-dystrophin gene therapy on dystrophic skeletal muscle in mice and humans evaluated with 31P-MRS

Sean C. Forbes, Rebecca J. Willcocks, Donovan J. Lott, Krista Vandenborne et autres

Motivation: It is unclear whether micro-dystrophin gene therapy will improve the metabolic status of dystrophic muscle. Goal(s): The goal of this study is to understand the effects of micro-dystrophin gene therapy on skeletal muscle energetics in dystrophic muscle. Approach: We used 31P-MRS …

A New Algorithm for Sampling Parameters in a Structured Correlation Matrix With Application to Estimating Optimal Combinations of Muscles to Quantify Progression in Duchenne Muscular Dystrophy

Michael K. Kim, Michael J. Daniels, William D. Rooney, Rebecca J. Willcocks et autres

The goal of this paper is to estimate an optimal combination of biomarkers for individuals with Duchenne muscular dystrophy (DMD), which provides the most sensitive combinations of biomarkers to assess disease progression (in this case, optimal with respect to standardized response mean …

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A new algorithm for sampling parameters in a structured correlation matrix with application to estimating optimal combinations of muscles to quantify progression in Duchenne muscular dystrophy

Michael K. Kim, Michael J. Daniels, William D. Rooney, Rebecca J. Willcocks et autres

The goal of this paper is to estimate an optimal combination of biomarkers for individuals with Duchenne muscular dystrophy (DMD), which provides the most sensitive combinations of biomarkers to assess disease progression (in this case, optimal with respect to standardized response mean …

Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy

Krista Vandenborne, Glenn A. Walter, Volker Straub, Rebecca J. Willcocks et autres

Importance: Delandistrogene moxeparvovec is a recombinant adeno-associated virus rhesus isolate serotype 74 vector-based gene transfer therapy for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed pathogenic variant of the DMD gene. In a subset of patients in the …

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Comparative lipidomic and metabolomic profiling of mdx and severe mdx-apolipoprotein e-null mice

Ram B. Khattri, Abhinandan Batra, Zoe White, David W. Hammers et autres

Abstract Despite its notoriously mild phenotype, the dystrophin-deficient mdx mouse is the most common model of Duchenne muscular dystrophy (DMD). By mimicking a human DMD-associated metabolic comorbidity, hyperlipidemia, in mdx mice by inactivating the apolipoprotein E gene ( mdx-ApoE ) we previously …

us, ca (code pays fourni par la source)

Mapping human skeletal muscle glycogen in Pompe disease patients

Qing Zeng, Glenn A. Walter, Peter C.M. van Zijl, Manuela Corti et autres

Motivation: Pompe disease is a glycogen storage disease which leads to abnormal glycogen accumulation in tissues such as skeletal muscle, but there is a lack of suitable noninvasive methods to assess disease progression and treatment response. Goal(s): To develop an MRI method …

Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy

Alexander B. Willis, Aaron S. Zelikovich, Robert Sufit, Senda Ajroud‐Driss et autres

Weekly Steroids in Muscular Dystrophy (WSiMD) was a pilot study to evaluate once weekly prednisone in patients with Limb Girdle and Becker muscular dystrophy (LGMD and BMD, respectively). At study endpoint, there were trends towards increased lean mass, reduced fat mass, reduced …

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A model‐informed clinical trial simulation tool with a graphical user interface for Duchenne muscular dystrophy

Jongjin Kim, Juan Francisco Morales, Sanghoon Kang, Marian Klose et autres

Quantitative model-based clinical trial simulation tools play a critical role in informing study designs through simulation before actual execution. These tools help drug developers explore various trial scenarios in silico to select a clinical trial design to detect therapeutic effects more efficiently, …

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319P MRI gluteal/thigh muscle fat fraction detects NSAD motor task failures in men with Becker muscular dystrophy

Kelly Rock, Rebecca J. Willcocks, Alison M. Barnard, Sean C. Forbes et autres

Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy

Breana M. Jenkins, Lathan D. Dixon, Kevin J. Kokesh, Carla D. Zingariello et autres

Abstract Introduction/Aims The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient‐reported …

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