Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
111 participants
OBSERVATIONAL
2020-02-01
2020-03-28
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
RETROSPECTIVE
Interventions
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Pure tone audiometry
pure tone audiometry
Eligibility Criteria
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Inclusion Criteria
* genetically confirmed c.151 C\>T, p.Pro51Ser variant carrier in COCH gene
* not contra-indication for audiometric testing
Exclusion Criteria
* no carrier status for c.151C\>T, p.Pro51Ser
* no auditory data available
18 Years
ALL
No
Sponsors
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Jessa Hospital
OTHER
Responsible Party
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Principal Investigators
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Vincent Van Rompaey, MD,PhD
Role: STUDY_DIRECTOR
University Hospital, Antwerp
Locations
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Jessa Hospital
Hasselt, Limburg, Belgium
University of Antwerp
Antwerp, , Belgium
Countries
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References
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Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. Hum Mutat. 2013 Apr;34(4):539-45. doi: 10.1002/humu.22268. Epub 2013 Feb 19.
Related Links
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audiogene v4.0
Other Identifiers
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JessaH-5-ORL
Identifier Type: -
Identifier Source: org_study_id
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