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Epidemiology of Non-syndromic Dominant Deafness

NCT ID: NCT01150305

Last Updated: 2013-08-07

Study Results

Results pending

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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Recruitment Status

COMPLETED

Total Enrollment

183 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-04-30

Study Completion Date

2012-04-30

Brief Summary

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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

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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

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Hearing Impairment

Keywords

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Autosomal dominant inheritance Mutation Prevalence

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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1

Patient presenting familial dominant non syndromic hearing loss starting between 4 and 40 years old, over 2 generations

blood sample

Intervention Type BIOLOGICAL

Peripheral whole blood sample, 5 ml

2

Healthy volunteer from the same families

blood sample

Intervention Type BIOLOGICAL

Peripheral whole blood sample, 5 ml

Interventions

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blood sample

Peripheral whole blood sample, 5 ml

Intervention Type BIOLOGICAL

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

* 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
Minimum Eligible Age

4 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Françoise Denoyelle, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

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Hôpital Armand-Trousseau, Service d'ORL pédiatrique et de Chirurgie Maxillo Faciale

Paris, , France

Site Status

Countries

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France

Other Identifiers

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AOM 08041

Identifier Type: -

Identifier Source: org_study_id