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Clinical Studies

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  • Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network Rochester, Minn.

    The purpose of this study is to establish a national network added to and building upon the National Institutes of Health Undiagnosed Diseases Program (NIH UDP). 

    The specific aims of the UDN are to improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common and site-specific protocols designed by an enlarged community of investigators, and to facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures. 

Closed for Enrollment

  • Investigation of Hyperammonemia in Patients Status Post Roux-en-Y Gastric Bypass Surgery Rochester, Minn.

    The purpose of this study is to determine plasma levels of Peptide YY  (PYY), ghrelin, ammonia, and amino acids prior to and after Roux-en-Y gastric bypass surgery.
  • Research for Individualized Therapeutics in Rare Genetic Disease Rochester, Minn., Jacksonville, Fla., Scottsdale/Phoenix, Ariz.

    The purpose of this study is to identify patients with rare genetic disorders that may potentially benefit from an ASO therapeutic based on the characteristics of their genetic disease and the causative genetic alterations and seek the research and development opportunities to have them developed, to have the safety and toxicity studies performed with the ultimate goal of treating the individual in a future N of 1 clinical trial.
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