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): Observing Disease Progression, Treatments, and Outcomes
Led by University Medical Center Groningen · Updated on 2025-01-24
200
Participants Needed
1
Research Sites
564 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 different PFIC types over time, improve knowledge about these diseases, and predict their progression. It also seeks to evaluate the effectiveness and safety of various treatments, including symptomatic therapies, surgical or medical interruption of enterohepatic circulation, and newer therapies like corrector/potentiator or exon skipping therapies. The study will also explore biochemical markers and genetic relationships with disease progression and treatment response.
CONDITIONS
Official 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
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1
2
3
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