EE Awards $660K to Cystic Fibrosis Nonsense Mutations Research

Emily’s Entourage (EE) is thrilled to announce that three research grants have been awarded to an esteemed group of international researchers, amounting to a total of $660,000 to be given over a two-year period. These grants advance critical research with the singular goal of expediting therapeutic development for people with Cystic Fibrosis (CF) nonsense mutations.

“These new grants assess the efficacy of current and investigational therapies for CF nonsense mutations, reflecting the commitment of Emily’s Entourage to push the boundaries of novel therapeutic development for CF and bring these breakthroughs to patients quickly.”

-EE Scientific Director Peter Haggie, PhD

Novel Therapeutic Approaches For Treatment of CF Patients With The W1282X Premature Termination Codon Mutation

Venkateshwar Mutyam, PhD and Steven M. Rowe, MD, MSPH

University of Alabama at Birmingham

Prior studies supported by Emily’s Entourage revealed that KALYDECO provides therapeutic benefit in some CF subjects with the W1282X mutation. These provocative studies will be extended in further n-of-1 clinical trials to assess whether clinical benefits can be further enhanced by an approved corrector-potentiator therapy.

Strategy: Browsing the Library: Identifying and Repurposing Therapeutic Molecules

Improving W1282X CFTR Airway Epithelial Cell Function With Small Molecules

Theo Moraes, MD, PhD, Tanja Gonska, MD, Christine Bear, PhD, and Felix Ratjen, MD, PhD, FRCPC

The Hospital for Sick Kids, Toronto, Canada

Combining expertise in cell culture, CFTR functional assessment, therapeutic development, and clinical practice, this project will assess whether available therapeutic approaches modulate key properties, including ion transport and mucociliary clearance, in airway epithelial cells derived from CF subjects with the W1282X mutation.

Strategy: Browsing the Library: Identifying and Repurposing Therapeutic Molecules


A Molecular Prosthesis For CFTR-Independent Treatment Of CF Caused By Nonsense Mutations

Martin D. Burke, MD, PhD and Michael J. Welsh, MD

University of Illinois at Urbana-Champaign and University of Iowa

CF is caused by loss of function of the CFTR ion channel. Development of alternative ways to restore missing channel function independently of CFTR is an urgent unmet medical need. Based on compelling studies in cell culture models and in CF animal models, this project will test a novel therapeutic strategy to directly address this need. This approach uses a drug approved for an alternative indication and could eventually lead to development of a novel therapeutic approach for CF.

Strategy: Creative Workarounds: Working with Alternative Pathways


These grants represent the second round of funding supported by the Catalyst for a Cure Campaign, a groundbreaking $3 million initiative launched in 2017 to fund strategic research areas identified by the EE Scientific Advisory Board to speed research and drug development on CF nonsense mutations.

What Impact Will This Have?

Emily’s Entourage has awarded over $3.3 million since 2011 to accelerate the development of life-saving treatments that can reach patients with CF nonsense mutations quickly. Patients with two copies of a nonsense mutation represent the largest portion of the outlying 10% of the CF population for whom there are currently no targeted treatments.

We want to sincerely thank the committed scientists who are leading the way, developing innovative therapeutic approaches for CF nonsense mutations, as well as our incredible supporters, who are the fuel propelling these trailblazing efforts.

To learn more, visit the Awarded Grants page.

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