Effect of familial intrahepatic cholestasis type 1 on the nose potential difference response.

Completed

• Conditions: bile accumulation; familial intrahepatic cholestasis type 1 (FIC1 disease); 10019806; 10019654

• Registration Number: NL-OMON33224
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 10

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: * <55 U/L en * <40 U/L.
- Age older than 18 years.
- Intact nasal respiratory epithelium.

Exclusion Criteria

- Age younger than 18 years.
- inflammation of the nasal respiratory epithelium, localized hemorrhage or viral infection in the nasal epithelium.
- Smokers.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Potential difference in milivolt (mV) in the nasal epithelium.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable.</p><br>