Agents for reversing toxic proteinopathies

US12048676B2 · kind B2 · utility

Assignees

• The Broad Institute, Inc. · US
• The Brigham and Women's Hospital, Inc. · US
• DANA-FARBER CANCER INSTITUTE, INC. · US
• INSTITUTO CARLOS SLIM DE LA SALUD, A.C. · MX

Inventors

• Anna Greka · Boston, US
• Moran Dvela-Levitt · Cambridge, US
• Maria Alimova · Cambridge, US
• Eric S. Lander · Cambridge, US
• Todd Golub · Newton, US
• Florence Fevrier Wagner · Ashland, US
• Brian T. Chamberlain · Cambridge, US
• Valeria Padovano · Cambridge, US
• Joseph Growney · Cambridge, US

Key dates

• Filing date: Oct 6, 2021
• Grant date: Jul 30, 2024
• Expiry date: Oct 6, 2041

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2800/347
• WIPO field: Measurement
• WIPO sector: Instruments

Abstract

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.