Cystic fibrosis (CF) has seen transformative treatments that have greatly improved the lives of most patients, yet a significant minority, approximately 10%, remain without effective options due to different genetic mutations.
Emily Kramer-Golinkoff, founder of Emily's Entourage, emphasizes the plight of these patients, advocating for increased focus on their needs at the annual CF community gathering in Atlanta.
Recent setbacks in clinical trials, including Vertex and Moderna's halted mRNA drug trial and Boehringer Ingelheim's discontinued gene therapy trial, underscore the difficulties in developing treatments for this group.
While drugs like Trikafta and Alyftrek have revolutionized care for the majority by targeting the CFTR protein, those with non-responsive mutations continue to face severe health challenges. Emily's Entourage has raised over $22 million to fund research into alternative therapies, including antisense oligonucleotides and gene therapies, with some promising developments underway.
The organization also explores innovative approaches like phages and antimicrobials to combat drug-resistant infections. Kramer-Golinkoff's advocacy is crucial in combating misconceptions about CF treatment progress, as many believe the disease has been largely cured, which can hinder investment in research for the remaining patients.
The ongoing efforts aim not only to find solutions for CF but also to advance understanding of other genetic conditions, emphasizing the importance of continued research and support for the final 10% of patients who still face significant health challenges