Novel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations

Cystic Fibrosis Clinical Trial

Official title: Novel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations

Status Recruiting

Clinical Trial Summary

Based on previous clinical findings, the investigator hypothesize that ivacaftor will have synergistic effects with drugs that facilitate truncated but partially active W1282X CFTR protein processing (tezacaftor) in patients with W1282X CFTR. In the current study, the investigators propose to directly test the efficacy of tezacaftor/ivacaftor (TEZ/IVA) and Trikafta for W1282X CFTR therapy in the clinic in comparison to ivacaftor alone.

Clinical Trial Description

Approximately 11% of CF patients have premature termination codons (PTC), causing truncated CFTR with little to no function. No approved therapies exist for patients with PTC mutations including W1282X, a unique mutation exhibiting partial CFTR activity even in its truncated form. CFTR modulators alone enhanced CFTR function in patient cells from W1282X/G542X CFTR. Several published studies have shown CFTR modulators alone and/or in combination with readthrough (RT) agents benefit W1282X CFTR. Clinical studies further support an aspect of this notion, where two W1282X patients showed beneficial effect to Ivacaftor treatment. ;

Related Conditions & MeSH terms

• Cystic Fibrosis

• NCT number: NCT03624101
• Study type: Interventional
• Source: University of Alabama at Birmingham
• Contact: Heather Hathorne, PhD
• Phone: 205-638-9568
• Email: hhathorne@peds.uab.edu
• Status: Recruiting
• Phase: Phase 4
• Start date: December 1, 2018
• Completion date: January 31, 2025