Observational analysis of Progressive Familial Intrahepatic Cholestasis treatment

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

This observational study aims to follow the natural course and prognosis of various types of Progressive Familial Intrahepatic Cholestasis (PFIC) to enhance understanding of these rare diseases. It will evaluate the efficacy of different treatments, including symptomatic therapies and surgical interventions, while also assessing the safety and complications associated with these treatments. By collecting biochemical, clinical, and surgical data, the study seeks to provide insights into disease progression and treatment outcomes for PFIC patients.

Why it matters

Who can join: the full rules

Inclusion Criteria:

\- Genetically confirmed cases of a PFIC type disease: FIC1 deficiency, BSEP deficiency, MDR3 deficiency, TJP2 deficiency, FXR deficiency, SLC51A deficiency, USP53 deficiency, KIF12 deficiency, ZFYE19 deficiency, MYO5B deficiency, SEMA7A deficiency, VPS33B deficiency, PSKH1 deficiency.

Exclusion Criteria:

\- Cases with suspected PFIC type disease, but without genetic testing data available.

Where it's running

• University Medical Center Groningen
  Groningen, Netherlands Recruiting

Study contacts

• Study coordinator: Henkjan J Verkade, MD, PhD, Professor
• Email: h.j.verkade@umcg.nl; pfic@bkk.umcg.nl
• Phone: 31-50-3614147

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Odevixibat for PFIC in China: Real-world Safety and Effectiveness

  This registry collects real-world safety and effectiveness data on children with PFIC who are being treated with odevixibat in China.

  Recruiting at 2 sites Ipsen · Beijing and 5 other locations · NCT07588880

• Finding genetic causes of adult-onset cholestatic liver disease

  This study uses whole-genome sequencing to try to find rare genetic causes in adults with unexplained cholestatic liver disease so care can be better tailored.

  Recruiting Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · Milan, Milano · NCT07317193

• Long-term safety and outcomes of Livmarli for Alagille syndrome in the EU

  This study will follow people with Alagille syndrome who take Livmarli to see if it is safe, well tolerated over the long term, and continues to reduce cholestatic itching.

  Recruiting at 13 sites Phase 4 Mirum Pharmaceuticals, Inc. · Brussels and 14 other locations · NCT07290257

• Long-term outcomes of odevixibat (Bylvay) for people with PFIC in South Korea

  This registry will see how well odevixibat controls symptoms and how safe it is over time for people with Progressive Familial Intrahepatic Cholestasis (PFIC) in South Korea.

  Recruiting at 2 sites Ipsen · Gyeongsang and 4 other locations · NCT07185919

• Evaluating the long-term safety and outcomes of Livmarli in patients with liver diseases

  This study is testing how safe and effective the medication Livmarli is for people with Alagille syndrome or Progressive familial intrahepatic cholestasis over a five-year period.

  Recruiting at 8 sites Mirum Pharmaceuticals, Inc. · Los Angeles, California and 7 other locations · NCT06193928

• Maralixibat (Livmarli) use in Alagille syndrome and PFIC — Japanese database analysis

  This project will look at Japanese patients with Alagille syndrome or PFIC who received maralixibat (Livmarli) to see if taking the drug is linked to liver problems.

  Recruiting Takeda · Tokyo, Tokyo · NCT07293897

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.