The aim of this study is to investigate the effect of ATP8B1 carrier on hearing in human.
ID
Source
Brief title
Condition
- Hepatobiliary disorders congenital
- Hepatic and hepatobiliary disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Hearing loss
Secondary outcome
Not applicable
Background summary
Familiar intrahepatic cholestasis type 1 (FIC1) is caused by mutations in the
ATP8B1 gene and is characterized by intrahepatic cholestasis, either in
episodes (BRIC1) or progressive (PFIC1). The exact mechanism of a deficiency of
FIC1 leading to cholestasis is still unknown.
Because ATP8B1 expression is also found in other organs than the liver,
patients with FIC1 may also present with extrahepatic symptoms. Some are well
known, such as pancreatitis, failure to thrive and diarrhea. Recently we also
found, that patients with BRIC1 do have hearing loss. Despite a mild phenotype
in patients with BRIC1 the degree of hearing loss seems to be similar to the
hearing loss in patients with PFIC1. Furthermore, also family members with one
mutation in ATP8B1 complain about hearing problems.
Study objective
The aim of this study is to investigate the effect of ATP8B1 carrier on hearing
in human.
Study design
About ten patients with BRIC1 will be asked permission to contact family
members with the question to whether they want to participate in this study,
consisting of four audiometric tests: tone and speach audiometry, tympanometry
and measuring of OtoAcoustic Emissions. These tests are without risk or side
effects.
If it's unknown whether they are carrier or not, we will first ask permission
to take blood for DNA analysis.
Study burden and risks
No risks
Lundlaan 6
3584 EA, Utrecht
Nederland
Lundlaan 6
3584 EA, Utrecht
Nederland
Listed location countries
Age
Inclusion criteria
One mutation in ATP8B1 gene
Adults (18 years or older)
No congenital hearing disorder or hearing loss with a known cause
Exclusion criteria
Congenital hearing disorder or hearing loss with a known cause
Children
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL25723.041.08 |