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Minerva Pediatrica 2019 August;71(4):362-70

DOI: 10.23736/S0026-4946.19.05511-7


language: English

Personalization of therapies in rare diseases: a translational approach for the treatment of cystic fibrosis

Valeria R. VILLELLA 1, Antonella TOSCO 2, Speranza ESPOSITO 1, Eleonora FERRARI 1, 3, Gianni BONA 3, Guido KROEMER 4, 5, 6, 7, 8, 9, Valeria RAIA 2, Luigi MAIURI 1, 3

1 European Institute for Research in Cystic Fibrosis, San Raffaele Scientific Institute, Milan, Italy; 2 Regional Cystic Fibrosis Center, Unit of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy; 3 Department of Health Sciences, University of Eastern Piedmont, Novara, Italy; 4 Equipe11 Labellisée Ligue Nationale contre le Cancer, Cordeliers Research Center, Paris, France; 5 INSERM U1138, Cordeliers Research Center, Paris, France; 6 Paris Descartes University, Paris, France; 7 Metabolomics and Cell Biology Platforms, Gustave Roussy Institute, Villejuif, France; 8 Section of Biology, Georges Pompidou European Hospital, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France; 9 Department of Women’s and Children’s Health, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden

High variability in the response rates to treatments can make the interpretation of data from clinical trials very difficult, particularly in rare genetic diseases in which the enrolment of thousands of patients is problematic. Personalized medicine largely depends on the establishment of appropriate early detectors of drug efficacy that may guide the administration (or discontinuation) of specific treatments. Such biomarkers should be capable of predicting the therapeutic response of individual patients and of monitoring early benefits of candidate drugs before late clinical benefits become evident. The identification of these biomarkers implies a rigorous stepwise process of translation from preclinical evaluation in cultured cells, suitable animal models or patient-derived freshly isolated cells to clinical application. In this review, we will discuss how a process of research translation can lead to the implementation of functional and mechanistic disease-relevant biomarkers. Moreover, we will address how preclinical data can be translated into the clinic in a personalized medical approach that can provide the right drug to the right patient within the right timeframe.

KEY WORDS: Precision medicine; Cystic fibrosis; Drug repositioning; Biomarkers

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