DFNA9DFNA9NCT04331015
Artificial Intelligence in Diagnosis of DFNA9
An observational study of DFNA9 and Sensorineural Hearing Loss, run by Jessa Hospital at 2 sites in Belgium.
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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- DFNA9, Sensorineural Hearing Loss
- What is being tested?
- Pure tone audiometry
- How many people
- 111 participants
- Where
- 2 sitesBelgium
- Study dates
- 1 Feb 2020to 28 Mar 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: A large cohort of 111 genetically confirmed p.P51S variant carriers, of whom audiometric data was collected from
Who may be able to join
- at least 18 years
- genetically confirmed c.151 C>T, p.Pro51Ser variant carrier in COCH gene
- not contra-indication for audiometric testing
Who cannot join
- <18 years
- no carrier status for c.151C>T, p.Pro51Ser
- no auditory data available
Trial locations and contacts
2 sites in 1 country.
Belgium2 sites
University of Antwerp
Antwerp, 2650
Jessa Hospital
Hasselt, Limburg, 3500
About this study
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.
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).
Read the 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.
- Conditions
- DFNA9, Sensorineural Hearing Loss
- Being tested
- Pure tone audiometry
- Keywords
- COCH, DFNA9, sensorineural hearing loss
- Medical subject headings
- Hearing Loss, Sensorineural
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pure tone audiometryDiagnostic test
pure tone audiometry
What is being measured
The primary outcome is the main question the study is designed to answer.
hearing threshold
audiometry (pure tone) decibel hearing level (dB HL) left, right ear , binaural average
Measured: 1 hour
age
years, age at time of audiometry
Measured: 1 hour
prediction gene locus
top 3 gene loci as predicted by Audiogene v4.0 machine learning tool
Measured: 1 hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2020
- Study start1 Feb 2020
- Primary completion28 Mar 2020
- Study completion28 Mar 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for DFNA9Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 111 participants (actual)
Sponsor and investigators
- Lead sponsor
- Jessa Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vincent Van Rompaey, MD,PhD, Study director, University Hospital, Antwerp
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04331015
- Sponsor's protocol ID
- JessaH-5-ORL
- Acronym
- DFNA9
- Status last verified
- Apr 2020
- First submitted
- 31 Mar 2020
- Last updated
- 3 Apr 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 23280582
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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.
- ClinicalTrials.gov ID
- NCT04331015
- Acronym / sponsor ID
- DFNA9 / JessaH-5-ORL
- Conditions
- DFNA9, Sensorineural Hearing Loss
- Keywords
- COCH, DFNA9, sensorineural hearing loss
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 111 participants (actual)
- Lead sponsor
- Jessa HospitalUniversity, hospital or other
- Study start
- 1 Feb 2020 (actual)
- Primary completion
- 28 Mar 2020 (actual)
- Study completion
- 28 Mar 2020 (actual)
- First posted
- 2 Apr 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- A large cohort of 111 genetically confirmed p.P51S variant carriers, of whom audiometric data was collected from
Key inclusion criteria (3 listed)
- at least 18 years
- genetically confirmed c.151 C>T, p.Pro51Ser variant carrier in COCH gene
- not contra-indication for audiometric testing
Key exclusion criteria (3 listed)
- <18 years
- no carrier status for c.151C>T, p.Pro51Ser
- no auditory data available
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Pure tone audiometrypure tone audiometry | Diagnostic test | – |
Primary outcome
hearing threshold
Time frame: 1 hour
audiometry (pure tone) decibel hearing level (dB HL) left, right ear , binaural average
age
Time frame: 1 hour
years, age at time of audiometry
prediction gene locus
Time frame: 1 hour
top 3 gene loci as predicted by Audiogene v4.0 machine learning tool
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2020.
- Results publication: PubMed 23280582Taylor 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.
- audiogene v4.0Link provided by the sponsor.
- Individual participant dataSharing planned: No
Related trials for DFNA9
RecruitingObservational study
Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
Vestibular Diseases, DFNA9
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vincent Van Rompaey, MD,PhD study director
University Hospital, Antwerp
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of DFNA9 and Sensorineural Hearing Loss, run by Jessa Hospital at 2 sites in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Apr 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
hearing threshold (time frame: 1 hour). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04331015, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2020.