Response to modulator therapy in a cystic fibrosis patient with a single identified <i>CFTR</i> variant not eligible for modulator treatment

Facilitating access to modulator therapies for patients with rare mutations is crucial, considering the potential long-term complications of CF. While organoid studies may not always predict clinical response, real-world cases demonstrate clinically meaningful benefit despite lack of organoid responsiveness. Short-term assessment of modulator response may not adequately reflect improvement in pulmonary function or exacerbation frequency, but decreases in sweat chloride, improvements in nutritional and functional parameters such as weight, BMI, and exercise capacity may be indicative of improvement in pulmonary function and exacerbation rates.