The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.
Antonia Felzen, Henkjan J Verkade
https://pubmed.ncbi.nlm.nih.gov/34478903Actively Recruiting
All Genders
ID06778174
Prospective Analysis of the Treatment of Progressive Familial Intrahepatic Cholestasis (TreatFIC)
Led by University Medical Center Groningen · Updated on 2025-01-24
200
Participants Needed
1
Research Sites
304 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting a prospective observational study to better understand Progressive Familial Intrahepatic Cholestasis (PFIC), a group of very rare genetic liver diseases. The study aims to track the natural course and prognosis of various PFIC types, evaluate the effects of different treatments including symptomatic therapies, surgical or medical interruption of enterohepatic circulation, and newer therapies like corrector/potentiator or exon skipping. It also seeks to identify complications from these treatments, understand biochemical changes over time, and explore genotype-phenotype relationships where possible. This study observes patients with genetically confirmed PFIC types such as FIC1 deficiency (PFIC1), BSEP deficiency (PFIC2), MDR3 deficiency (PFIC3), and other rarer genetic subtypes. The study does not assign any specific treatment, focusing instead on collecting real-world data about patients' treatments and disease progression over time. Follow-up includes monitoring biochemical, clinical, and surgical parameters, including liver transplantation status. Participants are followed longitudinally for as long as possible, with data collected on liver transplantation occurrence at various ages and mortality rates. Biochemical markers and clinical outcomes are recorded to associate changes with treatments and disease course. The study intends to provide broad insights into PFIC's progression, treatment safety, and outcomes, supporting future predictions and personalized care strategies.
CONDITIONS
Brief Title
Prospective Analysis of the Treatment of Progressive Familial Intrahepatic Cholestasis (TreatFIC)
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- 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.
You will not qualify if you...
- Cases with suspected PFIC type disease, but without genetic testing data available.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Long-term Monitoring
Duration - Up to several years, including assessments at 5, 10, 15, 18 years of age, and beyond
Participants with genetically confirmed PFIC types are observed over time to monitor liver transplantation and survival outcomes.
Trial Site Locations
Total: 1 location
1
University Medical Center Groningen
Groningen, Netherlands, 9700 RB
Actively Recruiting
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Research Team
H
Henkjan J Verkade, MD, PhD, Professor
W
Willem S Lexmond, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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Published Research Related To This Trial
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Antonia Felzen, Daan B E van Wessel, Emmanuel Gonzales...
https://pubmed.ncbi.nlm.nih.gov/36687469Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative.
Daan B E van Wessel, Emmanuel Gonzales, Bettina E Hansen...
https://pubmed.ncbi.nlm.nih.gov/33991701Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
Daan B E van Wessel, Richard J Thompson, Emmanuel Gonzales...
https://pubmed.ncbi.nlm.nih.gov/33666275Genotype correlates with the natural history of severe bile salt export pump deficiency.
Daan B E van Wessel, Richard J Thompson, Emmanuel Gonzales...
https://pubmed.ncbi.nlm.nih.gov/32087350