Patient Stratification by Standardization of the Image based Sweat Test for Cystic Fibrosis for use in Clinical Routine
Lombady partner:
- Andrea Gramegna, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
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Pathology of interest: |
Cystic fibrosis (CF) |
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Area of research: |
cystic fibrosis (CF) |
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Start date: |
01 February 2023 |
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End date: |
31 January 2026 |
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Funding: |
€ 250.000,00 |
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Project partners: |
University Medical Center Göttingen & Campus Institute Data Science, Germany Cliniques universitaires Saint-Luc, Université catholique de Louvain, Belgium INSERM U1151 Necker Enfant Malades, France IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University Milan, Italy University of Applied Sciences Hamburg, Germany |
The demonstration of a salty sweat has long been used to diagnose cystic fibrosis (CF), a rare disorder affecting 1 in 2,500 live births and associated with high morbidity and mortality. CF is caused by mutations resulting in a loss-of-function of the CFTR protein that mainly acts as a chloride channel. It leads to dramatic trans-epithelial ion and water transport abnormalities and produces a thick mucus obstructing airways and duct lumens of exocrine glands. Beyond complex treatments, mainly symptomatic, CFTR modulators have recently been developed to mitigate the mutation effects; there is, however, still no cure for CF. Moreover, there is an unmet need of validated biomarkers of CFTR function to quantify the remaining CFTR activity, e.g. to classify the level of the base defect and later assess the efficacy of target therapies. We aim at developing a usable common standard for the required experiments, the automated analysis via software and providing the experimental hardware setups for an easy dissemination of the technique to other sites. Stracyfic will offer a novel strategy to better classify and monitor patients by their individual level of the disease-causing effect. Enabling better detection as well as better management of the disease in the long run.