Progressive Familial Intrahepatic Cholestasis
Conditions
Keywords
PFIC, ASBT, IBAT, biliary diversion, liver transplantation
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.
Interventions
OTHERobservational study
The interventions are not determined by the study, which is purely observational on real world data.
Sponsors
University Medical Center Groningen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Other
| Measure | Time frame | Description |
|---|---|---|
| Number of participant undergoing a surgical biliary diversion | at 5, 10, 15 and 18 years of age, as well as >18 years of age | Number of participant undergoing a surgical biliary diversion related to age |
Countries
Netherlands
Contacts
Primary ContactHenkjan J Verkade, MD, PhD, Professor
Backup ContactWillem S Lexmond, MD, PhD
Outcome results
None listed