Research Publications

Emily’s Entourage supported the research that resulted in the following publications.


THE JOURNAL OF BIOLOGICAL CHEMISTRY

November 2016

Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product

AUTHORS

Peter M. Haggie, Puay-Wah Phuan, Joseph-Anthony Tan, Haijin Xu, Radu G. Avramescu, Doranda Perdomo, Lorna Zlock, Dennis W. Nielson, Walter E. Finkbeiner, Gergely L. Lukacs, Alas S. Verkman

SUMMARY
Drug discovery project conducted at University of California, San Francisco (UCSF) by Alan Verkman, MD, PhD. The study identified potent ‘correctors’ and ‘potentiators’ for the truncated form of CFTR produced by the W1282X mutation, and validated a therapeutic approach for the W1282X mutation similar to that used for delF508.

READ THE FULL PUBLICATION HERE

JOURNAL OF CYSTIC FIBROSIS 

January 2017

Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

AUTHORS
Venkateshwar Mutyam, Emily Falk Libby, Ning Peng, Denis Hadjiliadis, Michael Bonk, George M. Solomon, Steven M. Rowe

SUMMARY
Clinical study conducted by Steven M. Rowe MD at University of Alabama at Birmingham that demonstrated significant therapeutic benefit of using Ivacaftor (VX-770) in a W1282X homozygous CF subject. The clinical benefits – reduced pulmonary exacerbations, weight gain, reduced insulin usage – support off-label use of this CF drug in W1282X CF subjects.

READ THE FULL PUBLICATION HERE