Research Line

New precision medicine approaches in gastroenterology and hepatology /
Pediatrics - Gastroenterology, hepatology, pediatric transplantation and Cystic Fibrosis

Cystic Fibrosis (CF)
Multicenter, national and international clinical research is one of the priority goals. Since 2012, we have been participating in the activities of the Clinical Trial Network (CTN), a network consisting of European, CF-specialized centers, characterized by high scientific standards and clinical outcomes, which have been selected for participation in controlled clinical trials mainly in the therapeutic field.
In addition to participation in the clinical trials selected by the CTN, we are involved, both as coordinating center and as participating center, in working groups touching all the main aspects of CF: diagnosis, search for molecules that in vitro are able to correct the basic defect of CF, treatment and prevention of pulmonary infections typical of the disease, study of CFTR protein modulators in a real word context.
In the Cystic Fibrosis Microbiology Laboratory (Clinical Pathology) there has been a biobank for more than 10 years for the collection of strains of pathogenic microorganisms, isolated from the airways of CF patients. The study of the phenotypic and genotypic evolution of individual strains and the possible development of antibiotic resistance in relation also to the use of different drugs allows us to conduct research on the impact of pathogens on pulmonary function, the occurrence of CF complications, and develop different therapeutic strategies.  

The biobank also collects biological samples from CF patients to study the biological mechanisms underlying the disease and the changes induced on these mechanisms by new modulatory drug therapies.
In recent years, in view of the Sars Cov2 pandemic, research activity has also focused on assessing the impact of infection in CF patients in all its aspects. In this regard, numerous papers have been published and some long-term studies aimed at evaluating the humoral and cell-mediated immune response following vaccination and natural infection in CF patients are still ongoing.

Pediatric liver disease
Monitoring of CF patients on ETI (elexacaftor/tezacaftor/Ivacaftor) therapy with hepatic and pancreatic Fibroscan

Pediatric gastroenterologic diseases
Ultrasonographic evaluation with bowel loop study in CF patients on ETI therapy

CF-related diabetes
Since 2018, there has been a fruitful collaboration with the Hospital Endocrinology, which has enabled the enhancement of diabetological screening, which now includes continuous blood glucose monitoring in CF patients on ETI therapy in addition to performing the glucose loading curve.

  • IRCCS Ospedale San Raffaele, Unità infezioni e Fibrosi Cistica
  • IRCCS Ospedale San Raffaele, Unità Patogeni Batteri Emergenti, Divisione di Immunologia, Trapianti e Malattie Infettive
  • Centro Regionale Toscano per la Fibrosi Cistica, Azienda Ospedaliero-Universitaria Meyer, Firenze
  • IRCCS Ospedale Pediatrico Bambino Gesù, Roma
  • UOC Genetica Medica, Istituto G. Gaslini Genova
  • Fondazione Ricerca Fibrosi Cistica (FCC)
  • Centro Fibrosi Cistica di Verona, Azienda Ospedaliera Universitaria Integrata di Verona
  • Queen's University, Belfast
  • Karolinska Institute Stockholm

8 pediatricians, 1 university researcher, 2 health researchers, 2 biologists