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AssigneesThe Broad Institute, Inc., The Brigham and Women's Hospital, Inc., Dana-Farber Cancer Institute, Inc., Instituto Carlos Slim De La Salud, A.C.
InventorsAnna Greka, Moran Dvela-Levitt, Maria Alimova, Eric Lander, Todd R. Golub, Florence Wagner, Brian Chamberlain, Valeria Padovano, Joseph Growney
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The present disclosure relates to compositions and methods for the diagnosis and treatment or prevention of proteinopathies, particularly MUC1-associated kidney disease (ADTKD-MUC1 or MKD), Retinitis Pigmentosa (e.g., due to rhodopsin mutations), autosomal dominant tubulo-interstitial kidney disease due to UMOD mutation(s) (ADTKD-UMOD), and other forms of toxic proteinopathies resulting from mutant protein accumulation in the ER or other secretory pathway compartments and/or vesicles, among others. The disclosure also identifies and provides TMED9-binding agents as capable of treating or preventing proteinopathies of the secretory pathway, and further provides methods for identifying additional TMED9-binding agents.
A method of treating uromodulin kidney disease in a subject, the method comprising administering to the subject 2-endo-amino-3-exo-isopropylbicyclo[2.2.1]heptane or a pharmaceutically acceptable salt thereof in an amount effective to treat uromodulin kidney disease, thereby treating uromodulin kidney disease in the subject.
A method selected from the group consisting of:
A pharmaceutical composition for treating a subject having uromodulin kidney disease comprising a therapeutically effective amount of 2-endo-amino-3-exo-isopropylbicyclo[2.2.1]heptane and a pharmaceutically acceptable carrier.
Dependencies are inferred from the claim text.