Repeatability and Diagnostic Value of Nasal Potential Difference in a Genetically Admixed Population

Sad, Izabela Rocha; Higa, Laurinda Yoko Shinzato; Leal, Teresinha; Martins, Raisa da Silva; Almeida, Ana Claudia de; Ramos, Eloane Gonçalves; Cabello, Giselda M. K.; Peixoto, Maria Virgínia Marques

doi:10.14740/jocmr2312w

Cited by 1 publication

(1 citation statement)

References 37 publications

(105 reference statements)

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“…Several other CFTR biomarkers have potential to serve as an individual monitoring tool of CFTR activity, but are less well suited for large scale application. Nasal potential difference (NPD) has also been established as a clinical biomarker in multiple studies, but the expertise involved limit its utility for wide‐spread utilization for monitoring. Other assays, such as CFTR Western blot, mRNA expression, flow cytometry to quantify cell surface expression of either CFTR in monocytes (#60) or alterations in non‐CFTR membrane proteins in peripheral blood leukocytes (#298) all have potential utility, particularly in the clinical trial setting, but like NPD, need improvements for widespread application on a population basis or to determine individual response.…”

Section: Clinical Biomarkers Of Cftr Activitymentioning

confidence: 99%

Toward inclusive therapy with CFTR modulators: Progress and challenges

Guimbellot

Sharma

Rowe

2017

Pediatric Pulmonology

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Cystic fibrosis is caused by gene mutations that result in an abnormal Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein on the surface of cells. CFTR modulators are a novel class of drugs that directly target the molecular defect. CFTR modulators include potentiators that result in improved activity of the channel; correctors that help the protein traffic to the cell surface properly; and readthrough agents that restore full-length CFTR by suppression of premature termination codons, among other novel classes more recently established. While some of these drugs, CFTR potentiators in particular, have provided remarkable improvements for CF patients, others have yet to achieve profoundly improved outcomes, and many CF patients are not yet impacted by CFTR modulators due to lack of knowledge regarding susceptibility of their mutations to treatment. One limitation to expanding these types of therapies to the maximum number of patients with CF is the lack of rigorously validated clinical biomarkers that can determine efficacy on an individual basis, as well as few pre-clinical tools that can predict whether an individual with a rare combination of mutant alleles will respond to a particular CFTR modulator regimen. In this review, we discuss the various groups of CFTR modulators and their status in clinical development, as well as address the current literature on biomarkers, pre-clinical cellbased tools, and the role of pharmacometrics in creating therapeutic strategies to improve the lives of all patients with cystic fibrosis, regardless of their specific mutation.

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Section: Clinical Biomarkers Of Cftr Activitymentioning

confidence: 99%