bile accumulation familial intrahepatic cholestasis type 1 (FIC1 disease)
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Diagnosis of ATP8B1-deficiency which means two mutations identified in the ATP8B1-gene and at least one episode of normal or low γ-glutamyl transpeptidase (GGT) cholestasis. Normal value: *
Exclusion criteria
Exclusion criteria: - Age younger than 18 years. - inflammation of the nasal respiratory epithelium, localized hemorrhage or viral infection in the nasal epithelium. - Smokers.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Potential difference in milivolt (mV) in the nasal epithelium. | — |
Secondary
| Measure | Time frame |
|---|---|
| Not applicable. | — |
Countries
Netherlands
Outcome results
None listed