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A Study to Collect Blood Samples from Patients with Neuromuscular Disorders
Rochester, MN
The purpose of this study is to use the candidate gene approach to find the cause of the neuromuscular disease, determine mechanisms by which mutant genes causes the neuromuscular disease, and to use this information to generate structure-function correlations and, if possible, devise strategies for therapy.
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Quantitative Muscle Ultrasound – Normal values and Development of a Neuromuscular Disease Database
Rochester, MN
The purpose of this study is to
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To develop a database of normal values for muscle thickness and echo-intensity in American children and adults.
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To determine the sensitivity and specificity of muscle ultrasound in diagnosing neuromuscular disease in pediatric patients referred for EMG testing at the Mayo Clinic.
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A Study to Evaluate Rozanolixizumab to Treat Patients with Generalized Myasthenia Gravis
Rochester, MN
The purpose of this study is to assess the safety, tolerability, and effectiveness of additional 6-week treatment cycles with Rozanolixizumab in study participants with generalized myasthenia gravis.
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A Study Comparing Conventional Bilevel Positive Airway Pressure with a Back Up Rate, to Average Volume Assured Pressure Support for Treating Sleep Disordered Breathing in Patients with Neuromuscular Disease
Rochester, MN
The purpose of this study is to identify patients preference of one mode of noninvasive ventilation (BPAP-ST) over another (IPAP) in patients being treated for respiratory issues related to neuromuscular disease.
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A Study to Evaluate Pluripotent Stem Cell Models for Spinal Muscular Atrophy (SMA) Patients
Rochester, MN; La Crosse, WI; Jacksonville, FL
The purpose of this study is to perform RNA sequencing on induced pluripotent stem cells (iPSC). By comparing the gene expression of motor neurons derived from iPSC cells of phenotypically discordant Spinal Muscular Atrophy (SMA) sibling pairs and individual cases of SMA, we hope to identify potential protective gene modifiers of SMA. Identifying protective gene modifiers will increase our understanding of the molecular pathogenesis of SMA.