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

Recruiting

• Conditions: Progressive Familial Intrahepatic Cholestasis

• Registration Number: NCT06778174
• Lead Sponsor: University Medical Center Groningen

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-02-09
• Status Verified: 2025-01
• Study First Submitted: 2025-01-10
• Study First Submitted QC: 2025-01-10
• Study First Posted: 2025-01-16
• Last Update Submitted: 2025-01-21
• Last Update Posted: 2025-01-24
• Primary Completion: 2028-02
• Study Completion: 2033-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of participants with liver transplantation	at 5, 10, 15 and 18 years of age, as well as >18 years of age	The number (percentage) of patients undergoing liver transplantation related to the age of the patient

Secondary Outcome Measures

Name	Time	Method
Number of participants that succumbed	at 5, 10, 15 and 18 years of age, as well as >18 years of age	Mortality related to age of the patient

Trial Locations

Locations (1)

University Medical Center Groningen; 🇳🇱 Groningen, Netherlands