Brief Title
Artificial Intelligence in Diagnosis of DFNA9
Official Title
Positive Predictive Value of Machine Learning Tools (Audiogene v4.0) for Diagnosing DFNA9 in a Large Series of p.Pro51Ser Variant Carriers in COCH.
Brief Summary
To study the positive predictive value of Audiogene v.4.0 open source online machine learning
tool in accurately predicting DFNA9 (DeaFNess autosomal dominant ninth) as top 3 gene loci in
a large series of genetically confirmed c.151C>T,p.Pro51Ser (p.P51S) variant carriers in COCH
(coagulation factor C Homology).
Detailed Description
DFNA9 is an autosomal dominant hereditary adult-onset and progressive sensorineural hearing
loss which is associated wit vestibular deterioration.
Today, artificial intelligence plays an increasing role in diagnosis of Mendelian hearing
losses and in fitting of cochlear implants. An application of this kind is the open source
program, Audiogene v4.0, which was elaborated by the Center for Bioinformatics and
Computational Biology, University of Iowa City, Iowa, USA. The shape of the audiogram
(audioprofile) is easily recognizable in many autosomal dominantly inherited hearing losses.
Machine learning based software tools, such as Audiogene v4.0, which was originally developed
for prioritizing loci for the Sanger sequencing, could help the clinicians in early diagnosis
of DFNA9. This tool only need subjects' age and hearing thresholds (decibel hearing loss (dB
HL)) at frequency range of 0.125 - 8 kHz (kiloHerz), left, right or binaural average in order
to predict top 3 gene loci according to the data entered in the program.
Goal: to use auditory data of a large series of genetically confirmed p.P51S variant carriers
causing DFNA9, which were previously collected for the genotype-phenotype correlation study
which terminated recently.
All individual left and right sided hearing thresholds (ranging from 0.125 to 8kHz, with the
exception of 1.5 kHz) as well as binaural averaged thresholds were run through Audiogene
v4.0.
Descriptive statistics were assessed and statistical analysis was carried out to check for
possible differences between age or hearing thresholds between the carrier group with
accurate prediction against the carrier group with inaccurate prediction.
Study Type
Observational
Primary Outcome
hearing threshold
Condition
DFNA9
Intervention
Pure tone audiometry
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Diagnostic Test
Estimated Enrollment
111
Start Date
February 1, 2020
Completion Date
March 28, 2020
Primary Completion Date
March 28, 2020
Eligibility Criteria
Inclusion Criteria:
- at least 18 years
- genetically confirmed c.151 C>T, p.Pro51Ser variant carrier in COCH gene
- not contra-indication for audiometric testing
Exclusion Criteria:
- <18 years
- no carrier status for c.151C>T, p.Pro51Ser
- no auditory data available
Gender
All
Ages
18 Years - N/A
Accepts Healthy Volunteers
No
Contacts
Vincent Van Rompaey, MD,PhD, ,
Location Countries
Belgium
Location Countries
Belgium
Administrative Informations
NCT ID
NCT04331015
Organization ID
JessaH-5-ORL
Responsible Party
Sponsor
Study Sponsor
Jessa Hospital
Study Sponsor
Vincent Van Rompaey, MD,PhD, Study Director, University Hospital, Antwerp
Verification Date
April 2020