Expanding access to CFTR modulators for rare mutations: The utility of n-of-1 trials

The CF community is currently celebrating the approval of CFTR modulators for individuals with specific CFTR mutations. Once a modulator has been approved by regulators for the treatment of individuals with CF and relatively common CFTR mutations (e.g., G551D or F508del), the community's next challenge is to objectively assess efficacy of that treatment in individuals with CFTR mutations of such rarity that traditional, parallel-group, randomized controlled trials are not feasible. When efficacy is further demonstrated in rare mutation groups, expanding the labels of approved drug to these ultra-orphan subpopulations is essential to support equitable access: while physicians (in some countries) can legally prescribe these extremely expensive treatments off-label, lack of indication may allow third-party payers (e.g.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Source Type: research