Evolving Cystic Fibrosis Therapy: The Good, the Sad, and the Hopeful
Dominik Funken1,2, Hartmut Grasemann1,2,3
1Division of Respiratory Medicine, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Abstract:
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently developed effective CFTR modulator drugs have substantially altered the disease trajectory of people with CF (pwCF) with access to these new therapies. Yet globally, this transformation to causal treatment remains profoundly unequal, with a substantial proportion of pathogenic CFTR variants in populations of non-European ancestry neither detectable by widely used genetic CF screening panels nor approved for or responsive to modulator therapies. This narrative review organizes the current global treatment realities along three axes: pwCF with access to CFTR modulator therapy; pwCF experiencing structural barriers in proper diagnosis and drug access; and those pwCF with biological realities not predisposing to currently approved effective CF drugs.
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