To gain information about the characteristics of the oVEMP response in patients with BRIC type 1
ID
Source
Brief title
Condition
- Inner ear and VIIIth cranial nerve disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The main study parameters are the amplitude and the threshold of the oVEMP
response.
Secondary outcome
Other characteristics of the oVEMP-response, such as the latencies of the
various peaks in the response. All variables will be studied in relation to the
level of the oVEMP-evoking sound stimulus.
Background summary
Familiar intrahepatic cholestasis type 1 (FIC1) disease is an autosomal
recessive disease caused by mutations in the ATP8B1-gene, which presents with
intrahepatic cholestasis either as benign recurrent intrahepatic cholestasis
type 1 (BRIC type 1) or progressive intrahepatic cholestasis type 1 (PFIC type
1). In addition, some patients develop extrahepatic symptoms, such as
pancreatitis, diarrhoea, growth retardation and perceptive hearing loss,
associated with degeneration of the cochleair hair cells. Furthermore patients
with FIC 1 disease have reported complaints of disequilibrium. Current standard
vestibular testing (Electronystagmography (ENG)) solely tests the function of
one of the five subcomponents of the vestibular organ, the horizontal
semicircular canal. In patients with a mild phenotype of FIC 1 disease, BRIC
type 1, the ENG showed normal responses. An additional vestibular test, the
ocular Vestibular Evoked Myogenic Potential (oVEMP) test, can be used to
evaluate the function of two other subcomponents, the two otolith organs. In
this study we will compare the oVEMP responses of BRIC type 1 patients to
responses in normal subjects.
Study objective
To gain information about the characteristics of the oVEMP response in patients
with BRIC type 1
Study design
A cohort of BRIC type 1 patients will be tested and the results will be
compared to a group of normals.
Study burden and risks
For this study patients will have to visit the UMCU once for the oVEMP-test and
audiometry (in some cases). For the oVEMP-test 5 electrodes will be placed on
the face of the patient and an acoustic stimulus will be delivered to the ears
with the patient in supine position with raised eyes. The potentials risks of
the oVEMP-test are very small. The acoustic stimulus can be experienced as
uncomfortable, but is not painful and will not damage the auditory system.
Heidelberglaan 100
3584 CX Utrecht
Nederland
Heidelberglaan 100
3584 CX Utrecht
Nederland
Listed location countries
Age
Inclusion criteria
Patients with a mild phenotype of FIC1 disease, BRIC type 1, with 2 known mutations in the ATP8B1-gene and clinically one episode of low or normal *-glutamyl transpeptidase (GGT) cholestasis.
Age * 18 years
Exclusion criteria
An interfering cause of vertigo
History of eye-motility disorders
Audiometrically defined conductive hearing loss of more than 20 dB NHL at 500 Hz
Design
Recruitment
Medical products/devices used
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 | NL26583.041.09 |