Spinal muscular atrophy (SMA)

Displaying 4 studies

  • A Study to Identify Biomarkers of Spinal Muscular Atrophy in Spinraza-Treated Patients Rochester, MN; La Crosse, WI

    The purpose of this study is to identify biomarkers of spinal muscular atrophy in Spinraza-treated patients.

  • 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.

  • A Study to Create a Neuromuscular Observational Research (MOVR) Data Hub Rochester, MN

    MOVR Data Hub is the first and only data hub that aggregates clinical, genetic and patient reported data for multiple neuromuscular diseases. The combination of data collected through MOVR Data Hub will provide a comprehensive understanding of health and patient experiences in a single data repository. MOVR Data Hub has the power to transform health outcomes, accelerate drug development and drive clinical research across multiple neuromuscular diseases, helping to ensure that the next generation of individuals living with neuromuscular disease are afforded every opportunity to thrive.

  • Hirayama Disease Rochester, MN

    The purpose of this study is to determine the long-term progression and outcomes in patients who have the diagnosis of Hirayama disease.

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