BETHESDA, Md. – Today, the Cystic Fibrosis Foundation announced three new research awards as part of its Path to a Cure initiative to accelerate the development of treatments for the underlying cause of cystic fibrosis for every person with the disease. The latest round of funding includes up to $2.6 million to Eloxx Pharmaceuticals to identify compounds that could potentially treat individuals who have nonsense mutations, as well as awards to Hunterian Medicine and Metagenomi to advance genetic therapies for all people with CF.
Focus on Nonsense Mutations
Under this latest funding agreement, Eloxx will screen its library of more than 2,000 compounds to identify potential readthrough agents to address CFTR nonsense mutations, also referred to as stop mutations, which cause cells to stop the production of the CFTR protein prematurely. Readthrough agents have the potential to enable the ribosome — the protein-making machinery of the cell — to “read through” premature stop signals so that a full-length CFTR protein can be made. Once identified, the compounds will go through chemical testing to select those that can be developed into drugs.
In anticipation of future clinical trials, Eloxx will screen for candidates that could work in people with CF who have at least one G542X mutation, the most common nonsense mutation in CF. If proof-of-concept studies are successful, the compound could be used for other nonsense mutations. In January, the Foundation also funded up to $2 million to Eloxx to support the global Phase 2 clinical program of a more advanced compound, ELX-02, for treatment of people with CF who have at least one G542X mutation.
Nearly 4,000 people with CF in the U.S. have one or more nonsense mutations, which are challenging targets for drug discovery and development. Beyond CF there are more than 1,800 diseases caused by nonsense mutations, virtually all of which have eluded researchers seeking FDA-approved therapies. The Foundation is pursuing treatments for people with nonsense mutations — who are still waiting for a breakthrough because their mutations are not responsive to modulators — in parallel with its efforts to advance potentially curative approaches that could address all genetic mutations.
“We feel great urgency to identify therapies that target nonsense mutations as we pursue our ultimate goal of a cure for every person with CF,” said William Skach, MD, executive vice president and chief scientific officer for the Foundation. “The early stage research underway at Eloxx complements other Foundation-funded screening programs for nonsense mutation treatments and bolsters our scientific knowledge of these notoriously difficult-to-treat targets.”
Advancing Genetic Therapies
Genetic therapies hold great promise to cure cystic fibrosis, but delivering these therapies in CF is more challenging because of the lung’s natural defense mechanisms. Fitting large genes, such as CFTR, inside the adeno-associated viruses that are the standard for gene delivery, is another obstacle that will require novel solutions.
To help develop those solutions, the Foundation awarded up to $600,000 to Metagenomi to identify and develop novel gene editing systems that are small enough to be delivered to lung cells and could potentially be applied to a variety of mutations.
In addition, Hunterian Medicine was awarded up to $300,000 from the Foundation to modify gene therapy components so a healthy CFTR gene can be delivered to lung cells. Hunterian has identified very small promoters that control expression of the gene and will use CF Foundation support to conduct preclinical lab tests to choose the promoter that works best in cells lining the lungs.
About the Path to a Cure
The CF Foundation launched its $500 million Path to a Cure initiative in October 2019. This initiative centers around three core strategies to address the underlying cause of CF: repairing broken CFTR protein, restoring CFTR protein when none exists, and fixing or replacing the underlying genetic mutation to address the root cause of CF. Each approach requires a different set of scientific tools and knowledge, leading the Foundation to bring together researchers and industry leaders from a range of disciplines to advance multiple areas of research in parallel. Learn more about the Path to a Cure and related funding opportunities on cff.org.
About the Cystic Fibrosis Foundation
The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for cystic fibrosis. The Foundation funds more CF research than any other organization, and nearly every CF drug available today was made possible because of Foundation support. Based in Bethesda, Md., the Foundation also supports and accredits a national care center network that has been recognized by the National Institutes of Health as a model of care for a chronic disease. The CF Foundation is a donor-supported nonprofit organization. For more information, visit.
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