ArticleMolecular genetics & genomic medicine2021
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07632768 (The Return of the Pancreas), which is not on this map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The Return of the Pancreas: Evaluating Impact of CFTR Modulators on Pancreatic Function
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Hypertonic saline in people with cystic fibrosis: review of comparative studies and clinical practice.Italian journal of pediatrics · 2021Pooled it
- Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.BMC pediatrics · 2025Article
- Blood platelet reduction after elexacaftor/tezacaftor/ivacaftor treatment in people with cystic fibrosis may depend on systemic inflammation reduction.Scientific reports · 2025Article
- Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.PloS one · 2025Article
- CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids.Orphanet journal of rare diseases · 2024Article
- Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.Diagnostic pathology · 2024Article
- Liver biochemical indexes and cholesterol metabolism in cystic fibrosis patients with F508del/CFTR variant genotype after elexacaftor/tezacaftor/ivacaftor treatment.Scientific reports · 2024Article
- Improved Nutritional Outcomes and Gastrointestinal Symptoms in Adult Cystic Fibrosis Patients Treated with Elexacaftor/Tezacaftor/Ivacaftor.Digestive diseases (Basel, Switzerland) · 2024Article
- Article
- L1077P CFTR pathogenic variant function rescue by Elexacaftor-Tezacaftor-Ivacaftor in cystic fibrosis patient-derived air-liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients.Respiratory research · 2023Article
- Efficacy and Safety of Elexacaftor-Tezacaftor-Ivacaftor in the Treatment of Cystic Fibrosis: A Systematic Review.Children (Basel, Switzerland) · 2023Review
- Patient-derived cell models for personalized medicine approaches in cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2023Review
- Article
- One year of treatment with elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis homozygous for the F508del mutation causes a significant increase in liver biochemical indexes.Frontiers in molecular biosciences · 2023Article
- Q1291H-CFTR molecular dynamics simulations andFrontiers in molecular biosciences · 2023Article
- Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.Children (Basel, Switzerland) · 2022Review
- Effect of Dornase Alfa on the Lung Clearance Index in Children with Cystic Fibrosis: A Lesson from a Case Series.Children (Basel, Switzerland) · 2022Article
- Modulator Therapy in Cystic Fibrosis Patients withJournal of personalized medicine · 2022Article
- Dornase alfa in Cystic Fibrosis: indications, comparative studies and effects on lung clearance index.Italian journal of pediatrics · 2022Review
- Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.Journal of medical genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNew drugs that target the basic defect in cystic fibrosis (CF) patients may now be used in a large number of patients carrying responsive mutations. Nevertheless, further research is needed to extend the benefit of these treatments to patients with rare mutations that are still uncharacterized in vitro and that are not included in clinical trials. For this purpose, ex vivo models are necessary to preliminary assessing the effect of CFTR modulators in these cases.
methodWe report the clinical effectiveness of lumacaftor/ivacaftor therapy prescribed to a CF child with a rare genetic profile (p.Phe508del/p.Gly970Asp) after testing the drug on nasal epithelial cells. We observed a significant drop of the sweat chloride value, as of the lung clearance index. A longer follow-up period is needed to define the effects of therapy on pancreatic status, although an increase of the fecal elastase values was found.
conclusionDrug response obtained on nasal epithelial cells correlates with changes in vivo therapeutic endpoints and can be a predictor of clinical efficacy of novel drugs especially in pediatric patients.
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