Non-Modulator Therapies: Developing a Therapy for Every Cystic Fibrosis Patient

Marie E Egan

doi:10.1016/j.ccm.2022.06.011

Non-Modulator Therapies: Developing a Therapy for Every Cystic Fibrosis Patient

Clin Chest Med. 2022 Dec;43(4):717-725. doi: 10.1016/j.ccm.2022.06.011.

Author

Marie E Egan¹

Affiliation

¹ Division of Pulmonary Allergy Immunology Sleep Medicine, Department of Pediatrics, Pediatric Pulmonary Allergy Immunology and Sleep Medicine, Yale Cystic Fibrosis Center, School of Medicine, Yale University, 333 Cedar Street, PO Box 208064, New Haven, CT 06520, USA. Electronic address: [email protected].

PMID: 36344076
DOI: 10.1016/j.ccm.2022.06.011

Abstract

Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy brings hope to most patients with cystic fibrosis (CF), but not all. For approximately 12% of CF patients with premature termination codon mutations, large deletions, insertions, and frameshifts, the CFTR modulator therapy is not effective. Many believe that genetic-based therapies such as RNA therapies, DNA therapies, and gene editing technologies will be needed to treat mutations that are not responsive to modulator therapy. Delivery of these therapeutic agents to affected cells is the major challenge that will need to be overcome if we are to harness the power of these emerging therapies for the treatment of CF.

Keywords: Antisense oligonucleotide; Cystic fibrosis; Gene editing; Gene therapy; Messenger RNA; Premature termination codon; Read through agents.

Publication types

Review

MeSH terms

Cystic Fibrosis Transmembrane Conductance Regulator* / genetics
Cystic Fibrosis Transmembrane Conductance Regulator* / therapeutic use
Cystic Fibrosis* / genetics
Cystic Fibrosis* / therapy
Genetic Therapy
Humans
Mutation

Substances

Cystic Fibrosis Transmembrane Conductance Regulator