Prospective Analysis of the Treatment of Progressive Familial Intrahepatic Cholestasis (TreatFIC)

Last updated: January 21, 2025
Sponsor: University Medical Center Groningen
Overall Status: Active - Recruiting

Phase

N/A

Condition

Primary Biliary Cholangitis

Treatment

observational study

Clinical Study ID

NCT06778174
UGroningen - PaNaMaID11162
  • All Genders

Study Summary

The project has the following general aims:

  1. Natural course and prognosis: To prospectively follow the natural course and prognosis of the different types of PFIC, to broaden the understanding of the different very rare diseases and to allow predictions about the course of disease in different types of PFIC.

  2. Efficacy: To define the course of disease in FIC patients and identify associations with different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector/potentiator or exon skipping therapy. The course of disease will be characterized by biochemical, clinical and surgical parameters, including liver transplantation.

  3. Safety: To define the complications associated with the different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector/potentiator or exon skipping therapy, liver transplantation). Follow up will be as long as possible.

  4. (Surrogate) biomarker response: Biochemical parameters will be longitudinally collected and associated with changes in treatments / course of disease.

  5. Genotype-phenotype relationships: If patient numbers permit, to establish genotype-phenotype relationships for (non)responsiveness towards different treatments in patients with genetic mutations causing the different forms of FIC disease.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Genetically confirmed cases of a PFIC type disease: FIC1 deficiency, BSEPdeficiency, MDR3 deficiency, TJP2 deficiency, FXR deficiency, SLC51A deficiency,USP53 deficiency, KIF12 deficiency, ZFYE19 deficiency, MYO5B deficiency, SEMA7Adeficiency, VPS33B deficiency, PSKH1 deficiency.

Exclusion

Exclusion Criteria:

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

Study Design

Total Participants: 200
Treatment Group(s): 1
Primary Treatment: observational study
Phase:
Study Start date:
February 09, 2023
Estimated Completion Date:
December 31, 2033

Connect with a study center

  • University Medical Center Groningen

    Groningen, 9700 RB
    Netherlands

    Active - Recruiting

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