Finding genetic causes of adult-onset cholestatic liver disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The project performs advanced whole-genome sequencing on adults who have persistent or atypical cholestatic liver disease, including cases with negative or no prior genetic testing. Eligible participants are identified by prolonged elevations of alkaline phosphatase or GGT, atypical features of PSC, seronegative PBC, or a family history of unexplained cholestasis. Sequencing data will be analyzed to identify rare pathogenic variants that might explain the clinical presentation. Genetic diagnoses found could inform monitoring, treatment decisions, and family counseling.

Why it matters

Who can join: the full rules

Inclusion Criteria:

Cases:

* Adults, aged \> 18 years with:

  1. persistent or intermittent elevations in serum alkaline phosphatase (ALP) or gamma-glutamyltransferase (GGT) for at least six months not explained following standard diagnostic assessment adhering to the guidelines of the European Association for the Study of the Liver (EASL), or with a positive family history of unexplained cholestasis or hepato-biliary cancer, negative to previous genetic tests (targeted panel for PFIC genes or WES);
  2. primary sclerosing cholangitis (PSC) with unusual features: small-duct PSC, non-typical radiological findings according to radiological guidelines on PSC, absence of concomitant inflammatory bowel disease, negative to previous genetic tests (targeted panel for PFIC genes or WES) or who didn't perform previous genetic test;
  3. primary biliary cholangitis (PBC) without specific anti-mitochondrial antibodies, negative to previous genetic tests (targeted panel for PFIC genes or WES) or who didn't perform previous genetic test.
* Signature of informed consent

Controls:

-Blood donors (age 18-65 years) without clinical signs of liver diseases based on the collected clinical parameters: anthropometric (BMI\>18 and \<25), haematological (Hb, white blood cells, platelets within the reference range), biochemical traits (albumin, bilirubin, AST, ALT, GGT, ALP within the reference range), medical history (negative for chronic or concomitant diseases, including immunological diseases)

Exclusion Criteria:

Cases:

* Patients who do not possess the above inclusion criteria or have at least one of the following exclusion criteria:
* an already known genetic diagnosis explaining the clinical phenotype
* affected by other causes of liver disease such as viral or autoimmune hepatitis

Controls:

-Blood donors with clinical signs of liver diseases

Where it's running

• Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Istituto di Ricovero e Cura a Carattere Scientifico di natura pubblica
  Milan, Milano, Italy Recruiting

Study contacts

• Study coordinator: Luisa Ronzoni, Doctor
• Email: luisa.ronzoni@policlinico.mi.it
• Phone: 02.5503.4101

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.