Overcoming health disparities in access to CFTR modulator therapies: One child's journey with cystic fibrosis

Megan N Januska^{1

2}, Elinor Langfelder-Schwind¹, Maria N Berdella¹

Affiliations

¹ Department of Pulmonary, Critical Care, and Sleep Medicine, The Cystic Fibrosis Center at Mount Sinai Beth Israel, New York, New York, USA.
² Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Megan N Januska et al. Pediatr Pulmonol. 2022 Sep.

. 2022 Sep;57(9):2273-2275.

doi: 10.1002/ppul.26022. Epub 2022 Jun 15.

Megan N Januska^{1

2}, Elinor Langfelder-Schwind¹, Maria N Berdella¹

¹ Department of Pulmonary, Critical Care, and Sleep Medicine, The Cystic Fibrosis Center at Mount Sinai Beth Israel, New York, New York, USA.
² Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

No abstract available

Keywords: H609R; advocacy; case report; health disparities; ivacaftor.

References

1. McGarry ME, McColley SA. Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype. Pediatr Pulmonol. 2021;56(6):1496-1503.
1. Moya-Quiles MR, Glover G, Mondéjar-López P, Pastor-Vivero MD, Fernández-Sánchez A, Sánchez-Solís M. CFTR H609R mutation in Ecuadorian patients with cystic fibrosis. J Cyst Fibros. 2009;8(4):280-281.
1. Van Goor F, Hadida S, Grootenhuis PD, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci USA. 2009;106(44):18825-18830.
1. Laselva O, Ardelean MC, Bear CE. Phenotyping rare CFTR mutations reveal functional expression defects restored by Trikafta™. J Pers Med. 2021;11(4):301.
1. Han ST, Rab A, Pellicore MJ, et al. Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators. JCI Insight. 2018;3(14):Le121159.