Hearing ImpairmentSURDOMNCT01150305
Epidemiology of Non-syndromic Dominant Deafness
An observational study of Hearing Impairment, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness. Read more about this study
- Who is it for?
- Ages 4 years and olderHealthy volunteers can take part
- Conditions the study is for
- Hearing Impairment
- What is being tested?
- blood sample
- How many people
- 183 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2009to Apr 2012
- 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 4 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: families with non syndromic dominant hearing impairment followed by the clinical investigators
Who may be able to join
- Age > 4 years.
- Patient presenting familial dominant non syndromic hearing loss starting between 4 and 40 years old, over 2 generations
- Healthy volunteer from the same families
- Clinical and paraclinical assessment (genetic and ophthalmologic examination, audiometric tests, inner ear CT scan)
- Affiliated to the national health insurance benefit
- Signature of informed consent form
Who cannot join
- hearing loss resulting from an extrinsic reason or an associated syndrome
- Defective or insufficient samples
- No or insufficient clinical and biological description
- No informed consent form
Trial locations and contacts
1 site in 1 country.
France1 site
Hôpital Armand-Trousseau, Service d'ORL pédiatrique et de Chirurgie Maxillo Faciale
Paris, 75012
About this study
Official title: Genetic Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness. Among hereditary non-syndromic deafness autosomal-dominant inheritance is observed in about 10-20% of the cases. These forms of deafness are usually post-lingual and progressive. To date more than 41 chromosomal localisation and 21 genes associated to non syndromic dominant deafness have been described. It represents an extreme genetic heterogeneity making difficult the studies of these forms of hearing impairment. But, genetic diagnostic testing is crucial in these cases. Indeed, therapeutic research are in the way to prevent the progression of the disorder. The aim of this work is to establish the prevalence of the different genes involved in these forms of deafness.
Read the detailed description
The protocol consists first in the recruitment of 150 families with non syndromic dominant hearing impairment. The families will be recruited by the clinical investigators. The clinic and radiological characteristics of the hearing impairment will be collected by the clinical investigators. Samples of patients and healthy relatives will be sent to the referral center. A linkage study of the whole genome by SNP studies is in progress in a cohort of large families affected by autosomal dominant deafness. This work will enable us to select the loci that may be frequently implicated in our population and screen these genes in the 150 families included in the protocol.
- Conditions
- Hearing Impairment
- Being tested
- blood sample
- Keywords
- Autosomal dominant inheritance, Mutation, Prevalence
- Medical subject headings
- Hearing Loss, Multiple Pterygium Syndrome, Autosomal Dominant
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleBiological
Peripheral whole blood sample, 5 ml
| Study group | Role | What they receive |
|---|---|---|
| 1 | Patient presenting familial dominant non syndromic hearing loss starting between 4 and 40 years old, over 2 generations Receives: Biological: blood sample | |
| 2 | Healthy volunteer from the same families Receives: Biological: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
The identification of a deleterious mutation of a gene coding a protein present in the cochlea
Measured: 1 day
Secondary outcomes (1)
The phenotype genotype relationships after identification of the causative gene and mutation
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jun 2010 (estimated)
- Study startApr 2009
- Primary completionApr 2012
- Study completionApr 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hearing ImpairmentStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 183 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Françoise Denoyelle, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01150305
- Sponsor's protocol ID
- AOM 08041
- Acronym
- SURDOM
- Status last verified
- Aug 2013
- First submitted
- 29 Mar 2010
- Last updated
- 7 Aug 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Aug 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Epidemiology of Non-syndromic Dominant Deafness
- ClinicalTrials.gov ID
- NCT01150305
- Acronym / sponsor ID
- SURDOM / AOM 08041
- Conditions
- Hearing Impairment
- Keywords
- Autosomal dominant inheritance, Mutation, Prevalence
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 183 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Apr 2009
- Primary completion
- Apr 2012 (actual)
- Study completion
- Apr 2012 (actual)
- First posted
- 24 Jun 2010 (estimated)
- 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.
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness. Among hereditary non-syndromic deafness autosomal-dominant inheritance is observed in about 10-20% of the cases. These forms of deafness are usually post-lingual and progressive. To date more than 41 chromosomal localisation and 21 genes associated to non syndromic dominant deafness have been described. It represents an extreme genetic heterogeneity making difficult the studies of these forms of hearing impairment. But, genetic diagnostic testing is crucial in these cases. Indeed, therapeutic research are in the way to prevent the progression of the disorder. The aim of this work is to establish the prevalence of the different genes involved in these forms of deafness.
Detailed description
The protocol consists first in the recruitment of 150 families with non syndromic dominant hearing impairment. The families will be recruited by the clinical investigators. The clinic and radiological characteristics of the hearing impairment will be collected by the clinical investigators. Samples of patients and healthy relatives will be sent to the referral center. A linkage study of the whole genome by SNP studies is in progress in a cohort of large families affected by autosomal dominant deafness. This work will enable us to select the loci that may be frequently implicated in our population and screen these genes in the 150 families included in the protocol.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | Biological: blood samplePatient presenting familial dominant non syndromic hearing loss starting between 4 and 40 years old, over 2 generations |
| 2 | – | Biological: blood sampleHealthy volunteer from the same families |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- families with non syndromic dominant hearing impairment followed by the clinical investigators
Key inclusion criteria (6 listed)
- Age > 4 years.
- Patient presenting familial dominant non syndromic hearing loss starting between 4 and 40 years old, over 2 generations
- Healthy volunteer from the same families
- Clinical and paraclinical assessment (genetic and ophthalmologic examination, audiometric tests, inner ear CT scan)
- Affiliated to the national health insurance benefit
Key exclusion criteria (4 listed)
- hearing loss resulting from an extrinsic reason or an associated syndrome
- Defective or insufficient samples
- No or insufficient clinical and biological description
- No informed consent form
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 |
|---|---|---|
| blood samplePeripheral whole blood sample, 5 ml | Biological | 1, 2 |
Primary outcome
The identification of a deleterious mutation of a gene coding a protein present in the cochlea
Time frame: 1 day
1 secondary outcome
The phenotype genotype relationships after identification of the causative gene and mutation
Time frame: 1 day
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 7 Aug 2013.
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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.
Françoise Denoyelle, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hearing Impairment, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 6 inclusion and 4 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 7 Aug 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. 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?
The identification of a deleterious mutation of a gene coding a protein present in the cochlea (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 7 Aug 2013.