Artificial Intelligence in Diagnosis of DFNA9
DFNA9
Positive Predictive Value of Machine Learning Tools (Audiogene v4.0) for Diagnosing DFNA9 in a Large Series of p.Pro51Ser Variant Carriers in COCH.
1 other identifier
observational
111
1 country
2
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).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Feb 2020
Shorter than P25 for all trials
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 1, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 28, 2020
CompletedStudy Completion
Last participant's last visit for all outcomes
March 28, 2020
CompletedFirst Submitted
Initial submission to the registry
March 31, 2020
CompletedFirst Posted
Study publicly available on registry
April 2, 2020
CompletedApril 3, 2020
April 1, 2020
2 months
March 31, 2020
April 2, 2020
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
hearing threshold
audiometry (pure tone) decibel hearing level (dB HL) left, right ear , binaural average
1 hour
age
years, age at time of audiometry
1 hour
prediction gene locus
top 3 gene loci as predicted by Audiogene v4.0 machine learning tool
1 hour
Interventions
pure tone audiometry
Eligibility Criteria
A large cohort of 111 genetically confirmed p.P51S variant carriers, of whom audiometric data was collected from
You may qualify if:
- at least 18 years
- genetically confirmed c.151 C\>T, p.Pro51Ser variant carrier in COCH gene
- not contra-indication for audiometric testing
You may not qualify if:
- \<18 years
- no carrier status for c.151C\>T, p.Pro51Ser
- no auditory data available
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Jessa Hospitallead
Study Sites (2)
Jessa Hospital
Hasselt, Limburg, 3500, Belgium
University of Antwerp
Antwerp, 2650, Belgium
Related Publications (1)
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.
PMID: 23280582RESULT
Related Links
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Vincent Van Rompaey, MD,PhD
University Hospital, Antwerp
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 31, 2020
First Posted
April 2, 2020
Study Start
February 1, 2020
Primary Completion
March 28, 2020
Study Completion
March 28, 2020
Last Updated
April 3, 2020
Record last verified: 2020-04
Data Sharing
- IPD Sharing
- Will not share