Clinical trial NCT05618145: National Database on Primary Sclerosing Cholangitis (PSC)
Official title: Multicenter, Nationwide, Observational, Prospective Study Based on the Development of a Primary Sclerosing Cholangitis Patient's Database Linked to a Biological Sample Storage
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Primary Sclerosing Cholangitis
Keywords: Primary Sclerosing Cholangitis
Disease phenotypes
National Database
Lead sponsor: University of Milano Bicocca
Sponsor class: OTHER
First posted: 2022-11-16
Enrollment: 6000
Sex: ALL
Minimum age (years): 17
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: All PSC patients living in Italy and aged at least 17 years can be included in the database. Willing and able to give informed consent prior to any study specific procedure being performed; Diagnosis of PSC according to the most recent published guidelines (EASL).

Brief summary: Primary sclerosing cholangitis (PSC) a rare, chronic fibroinflammatory disease of the liver.

No data about the disease epidemiology exist in Italy. Therefore this study aims to develop a national PSC patient database linked to a biological sample storage.

Detailed description: Primary sclerosing cholangitis is a chronic fibroinflammatory disease of the liver characterized by chronic inflammation and sclerosis of the intrahepatic and/or extrahepatic bile ducts, and a risk for progression to liver failure and development of colorectal and hepatobiliary cancer 1. Both children and adults are affected. Patients with PSC have a diminished life expectancy with a median survival of 17 years after diagnosis. PSC is the leading indication for transplantation in some European countries. Epidemiological studies have found the highest prevalence rates of PSC in Northern European countries and North America (United States and Canada) ranging between 3.85 to 16.2 per 100,000 persons. In Italy, the estimates is of 0.8 per 100,000 persons but these figures underestimate the real disease burden 2.

Liver transplantation is currently the only life-extending accepted therapy for patients with end-stage liver disease (ESLD) secondary to PSC, and patients with PSC complicated by CCA who meet specific criteria. PSC recurs in the transplanted liver in up to 40% of patients. Taken together and combined with patients' debilitating quality of life issues, these data highlight the considerable disease burden and clinical impact of PSC on patients' outcomes. There is a strong, yet poorly understood, relationship between PSC and IBD; nearly 70%-80% of PSC patients have IBD, mainly ulcerative colitis.

Despite the high mortality associated with PSC and the efforts to optimize its management, there is no medical therapy proven to halt the progression of PSC or prevent its serious complications.

There have been no epidemiologic studies in PSC carried out in Italy, with the exception of the report of prevalence from the National registry of rare disease which provided an underestimated prevalence of 500 patients across the country. However, this study is limited by the nature of the registry which has administrative purposes and has a high rate of underreported cases.

The aim of the study is to implement a nationwide data collection on this rare disease to describe incidence and prevalence of PSC in Italy; identify and define distinct phenotypes and sub-phenotypes of PSC patients; identify factors influencing the progression of PSC and affecting mortality; assess safety and long-term efficacy of novel therapies.

The investigators will recruit patients and organise the collection of important clinical information and laboratory investigation, together with biological samples. Data will be collected in the form of electronic Case Report Forms (REDCap cloud) that will be completed by clinicians at baseline and thereafter on an annual basis. The clinical information will allow us to identify patients' clinical profiles. The biological samples will allow to understand key aspects of people's make up.

Eligibility criteria: Inclusion Criteria:

* Willing and able to give informed consent prior to any study specific procedure being performed;
* Diagnosis of PSC according to the most recent published guidelines (EASL);

Exclusion Criteria:

* Subject unwilling to participate at the study

Primary outcomes:
measure: Identify and define distinct phenotypes and sub-phenotypes of PSC patients at higher risk of disease progression.
timeFrame: Overall duration of the study (10 years)
Secondary outcomes:
measure: Identification of factors associated with response to therapies;
timeFrame: Overall duration of the study (10 years)
measure: Identification of biomarkers influencing the progression of PSC and affecting mortality
timeFrame: Overall duration of the study (10 years)
measure: Assessment of safety and long-term efficacy of novel therapies
timeFrame: Overall duration of the study (10 years)
Other outcomes:
Locations:
city: Ancona
country: Italy
facility: Ospedali riuniti di Ancona
city: Bari
country: Italy
facility: Policlinico di Bari
city: Bergamo
country: Italy
facility: ASST Bergamo ovest
city: Bergamo
country: Italy
facility: ASST Papa Giovanni XXIII
city: Bologna
country: Italy
facility: Ospedale Sant'Orsola Malpighi
city: Bologna
country: Italy
facility: Policlinico S. Orsola Malpighi
city: Bolzano
country: Italy
facility: Azienda sanitaria dell'Alto Adige
city: Brescia
country: Italy
facility: Spedali civili
city: Brescia
country: Italy
facility: Unità epatologica ed ecografia internistica a valenza dipartimentale, Fondazione Ospedaliera Poliambulanza
city: Cagliari
country: Italy
facility: Policlinico universitario Monserrato
city: Cagliari
country: Italy
facility: Presidio Ospedaliero San Michele ARNAS G. Brotzu
city: Castellana Grotte
country: Italy
facility: Osp. "S de Bellis" - IRCCS
city: Catania
country: Italy
facility: UO epatologia Ospedale Garibaldi
city: Catanzaro
country: Italy
facility: Azienda Ospedaliera Universitaria Mater Domini
city: Catanzaro
country: Italy
facility: Azienda Ospedaliera Universitaria- Mater Domini
city: Como
country: Italy
facility: Ospedale Valduce
city: Cosenza
country: Italy
facility: Unità operativa complessa di medicina interna- Azienda ospedaliera di Cosenza
city: Cremona
country: Italy
facility: ASST di Cremona
city: Cuneo
country: Italy
facility: Ospedale santa croce
city: Faenza
country: Italy
facility: Presidio Ospedaliero di Faenza (RA)
city: Ferrara
country: Italy
facility: Azienda Ospedaliero-Universitaria di Ferrara
city: Firenze
country: Italy
facility: Azienda ospedaliera universitaria careggi Firenze
city: Firenze
country: Italy
facility: Azienda ospedaliera universitaria Careggi
city: Foggia
country: Italy
facility: Centro C.U.R.E. Centro Universitario per la ricerca e la Cura delle Malattie Epatiche
city: Foggia
country: Italy
facility: Ospedale Casa Sollievo della Sofferenza
city: Gallarate
country: Italy
facility: ASST Valle Olona
city: Genova
country: Italy
facility: Policlinico San Martino
city: Lamezia Terme
country: Italy
facility: Presìdio Ospedaliero "Giovanni Paolo II"
city: Lecco
country: Italy
facility: ASST Lecco
city: Messina
country: Italy
facility: UO di epatologia clinica e biomolecolare. Università degli studi di Messina
city: Milano
country: Italy
facility: Az. Ospedaliera San Paolo- Polo universitario
city: Milano
country: Italy
facility: Istituto scientifico universitario San Raffaele
city: Milano
country: Italy
facility: Ospedale Niguarda Ca' Granda
city: Milano
country: Italy
facility: Ospedale San Giuseppe
city: Milano
country: Italy
facility: Policlinico di Milano
city: Modena
country: Italy
facility: Dipartimento Ospedaliero di Medicina Interna
city: Monza
country: Italy
facility: ASST Monza
city: Napoli
country: Italy
facility: Fondazione Evangelica Villa Betania, Ospedale generale di Zona
city: Napoli
country: Italy
facility: Ospedale policlinico Federico II di Napoli
city: Napoli
country: Italy
facility: Università della Campania Luigi Vanvitelli
city: Novara
country: Italy
facility: Ospedale maggiore della carità
city: Padova
country: Italy
facility: Azienda Ospedaliera di Padova
city: Padova
country: Italy
facility: UO di Gastroenterologia Azienda ospedaliera di Padova
city: Palermo
country: Italy
facility: Policlinico Paolo Giaccone
city: Parma
country: Italy
facility: Azienda ospedaliero universitaria di Parma
city: Pavia
country: Italy
facility: Istituto Clinico Città di Pavia-Gruppo Sandonato
city: Perugia
country: Italy
facility: Azienda ospedaliera di Perugia
city: Pescara
country: Italy
facility: Day Hospital Internistico e ambulatorio di Epatologia, ASL Pescara
city: Pisa
country: Italy
facility: Aou pisana Cisanello
city: Pordenone
country: Italy
facility: Ospedale di Pordenone AS FO
city: Potenza
country: Italy
facility: Ospedale San Carlo
city: Rimini
country: Italy
facility: Azienda unità sanitaria locale della Romagna
city: Roma
country: Italy
facility: Ospedale A. Gemelli
city: Roma
country: Italy
facility: Policlinico Umberto I
city: Roma
country: Italy
facility: Policlinico universitario campus bio-medico
city: Roma
country: Italy
facility: Universita' di Roma Tor Vergata
city: Rozzano
country: Italy
facility: Istituto clinico Humanitas
city: Salerno
country: Italy
facility: Università degli studi di Salerno
city: Torino
country: Italy
facility: Azienda Ospedaliero-Universitaria Molinette
city: Trento
country: Italy
facility: Azienda provinciale per i servizi sanitari
city: Trieste
country: Italy
facility: Ospedale di Cattinara, ASU GI
city: Udine
country: Italy
facility: ASU FC
city: Varese
country: Italy
facility: ASST Sette Laghi
Study officials:
References: