DFNA9 Clinical Trial - Artificial Intelligence in Diagnosis of DFNA9

Status Completed

Clinical Trial 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).

Clinical Trial 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 Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT04331015
Study type	Observational
Source	Jessa Hospital
Contact
Status	Completed
Phase
Start date	February 1, 2020
Completion date	March 28, 2020

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT00023036` - Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
Completed	`NCT03746613` - Clinal Evaluation of Navigation Based Functional Ear Surgery Using Image Guided and Robotically Assisted Techniques	N/A
Recruiting	`NCT05568329` - Appreciation for Music Processed by Hearing Aids	N/A
Withdrawn	`NCT05061758` - A Trial of LY3056480 in Patients With SNLH	Phase 2
Completed	`NCT01434446` - The Effect of Sound Stimulation on Hearing Ability	N/A
Completed	`NCT03212924` - Listening Effort in Cochlear Implant Users	N/A
Recruiting	`NCT06053190` - Effects of Clear Speech on Listening Effort and Memory in Sentence Processing	N/A
Completed	`NCT03718975` - Quality Control of CE-Certified Phonak Hearing Aids - 2018_28	N/A
Completed	`NCT06025097` - Intra-Tympanic Steroid With PRP Combination in Sensorineural Hearing Loss and Tinnitus.	Early Phase 1
Recruiting	`NCT04102215` - The Efficacy of a Minimally Invasive Direct Cochlear Access Via the HEARO Procedure	N/A
Recruiting	`NCT04108598` - The SeaSHeL National Prospective Cohort Study
Active, not recruiting	`NCT04750642` - Cochlear Implant With Dexamethasone Eluting Electrode Array	N/A
Completed	`NCT04120116` - FX-322 in Adults With Stable Sensorineural Hearing Loss	Phase 2
Recruiting	`NCT06223724` - Status Telemetry for Cochlear Implantations
Completed	`NCT02005822` - Congenital Cytomegalovirus: Efficacy of Antiviral Treatment	Phase 3
Suspended	`NCT02616172` - Autologous Bone Marrow Harvest and Transplant for Sensorineural Hearing Loss	Phase 1/Phase 2
Completed	`NCT02259595` - Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC	Phase 1
Unknown status	`NCT01902914` - Effectiveness of P02 Digital Hearing Aids	Phase 1/Phase 2
Completed	`NCT00589511` - Nucleus Freedom Cochlear Implant System Pediatric Post-approval Study	N/A
Completed	`NCT03288753` - Comparison Between Neuro 1 and Neuro 2 Cochlear Implant Speech Processors	N/A

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Artificial Intelligence in Diagnosis of DFNA9 — DFNA9

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms