FFC#9/2020

Theratyping of rare CFTR genotypes for treatment with CFTR modulators

FFC#9/2020

Theratyping of rare CFTR genotypes for treatment with CFTR modulators

PRINCIPAL INVESTIGATOR

Paola Melotti (Centro fibrosi cistica, AOUI Verona)

Partner

Marcel Bijvelds (Erasmus University Medical Center, Rotterdam); Giuseppe Castaldo (Centro CEINGE, Napoli – Biotecnologie Avanzate)

RESEARCHERS

16

CATEGORY

AREA 1 Therapies to correct the underlying defect

DURATION

2 years

GOAL

€ 87.000 €

RESULTS

About a third of Italian patients with cystic fibrosis is lacking approved CFTR modulators. Using findings in intestinal organoids (from rectal biopsies) and nasal cells (from nasal brushing), individual CF patients carrying rare CFTR mutations are proposed for treatment. Measurements of CFTR function are performed in intestinal and nasal cells to evaluate the efficacy of already approved CFTR modulators for other mutations (tezacaftor, lumacaftor, elexacaftor, ivacaftor) or not (ELX-02, PTC-124, others in preclinical phase) in 3D (FIS assay) and 2D (Ussing chambers). For the CFTR stop mutations and splicing mutations we evaluate the presence of transcripts (CFTR-mRNA), necessary for the therapeutic effect. Evaluation of the transport of bicarbonate in addition to chloride was set up in intestinal cells. Cells with at least one CFTR stop mutation after treatment with PTC-124 or ELX-02 alone showed no significant effect, the addition of ivacaftor at least doubled their chloride secretion which was further increased by adding tezacaftor/elexacaftor. Various CFTR mutations treated with tezacaftor/lumacaftor/elexacaftor/ivacaftor combinations showed significant recovery of CFTR function (up to fourfold). Similar results were obtained in intestinal and nasal cells from various patients with specific limitations/advantages of the two different potentially complementary models. When the drug was made available for therapy, the clinical effects in individual patients proved to be consistent with previously obtained laboratory results. These assays could indeed predict patient response to drugs and thus support authorization for CFTR modulator therapy of patients with rare mutations for whom classic experimental studies are impossible.

OTHER RESULTS

FFC#2/2022

Characterization of CFTR modulators mechanism of action via Photo-Affinity Labeling (PAL) approach

FFC#6/2022

Search for drug combinations killing Mycobacterium abscessus in cystic fibrosis

FFC#1/2021

Multiomics exploration of the CF primary bronchial epithelium lipidome and its role on CFTR rescue