Poster: Thesis Write Up #1

Ceniya Jefferson Dr. Thoma Poster Write Up #1 Genetics 12/05/2024 Topic: Triple Combination CFTR Modulator Therapy for Cystic Fibrosis (CF) Speaker: Amanda Matthews, PA-S II Amanda Matthews provided a comprehensive lecture on the advancements in treating cystic fibrosis through triple combination CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) modulator therapy. The discussion presented significant progress in addressing the underlying genetic mutation of CF rather than merely managing its symptoms. Matthews began by contextualizing CF as a life-limiting autosomal recessive disorder resulting from mutations in the CFTR gene, which weakens the immune system. She emphasized how traditional therapies, such as airway clearance techniques and antibiotics, focus on symptomatic relief rather than targeting the root cause. The introduction of CFTR modulator therapy revolutionized treatment by restoring CFTR protein function. Triple combination therapy, which includes elexacaftor, ivacaftor, etc., demonstrating improved pulmonary function, reduced exacerbations, and enhanced quality of life in patients with at least one F508del mutation. Matthews explained the pharmacokinetics of each drug, underscoring how elexacaftor increases the CFTR protein’s trafficking to the cell surface, helping protein stability, and the ivacaftor enhances chloride transport. One critical aspect of the lecture was the discussion of patient eligibility and limitations. While triple combination therapy is a breakthrough for many, Matthews acknowledges its high cost and limited applicability for patients with rare or more severe cases of CFTR mutations not addressed by the current modulators. She also addressed the potential side effects, including liver enzyme elevation, which requires close monitoring. The lecture concluded with an optimistic outlook on the future of CF treatment, including personalized medicine and the potential for gene-editing technologies such as CRISPR to provide a cure. Matthews encouraged attendees to advocate for patient access to these therapies and to remain updated for ongoing research.