Clinical Trials

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.

  • Long-Term Follow-Up Study of Risdiplam in Participants With Spinal Muscular Atrophy (SMA) Rochester, MN

    A multi-center, longitudinal, prospective, non-comparative study to investigate the long-term safety and effectiveness of risdiplam, prescribed based on clinician judgment as per the Evrysdi® U.S. Package Insert (USPI) in adult and pediatric participants with spinal muscular atrophy (SMA). In this study, participants will be followed for up to 5 years from enrollment or until withdrawal of consent, loss to follow-up, or death.

  • 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.

  • 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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