Epidemiology of Non-syndromic Dominant Deafness (SURDOM)

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief 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. 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.

Condition or disease	Intervention/treatment
Hearing Impairment	Biological: blood sample

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

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Observational
Actual Enrollment :	183 participants
Observational Model:	Case Control
Time Perspective:	Cross-Sectional
Official Title:	Genetic Epidemiology of Non-syndromic Dominant Deafness
Study Start Date :	April 2009
Actual Primary Completion Date :	April 2012
Actual Study Completion Date :	April 2012

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort	Intervention/treatment
1; Patient presenting familial dominant non syndromic hearing loss starting between 4 and 40 years old, over 2 generations	Biological: blood sample; Peripheral whole blood sample, 5 ml
2; Healthy volunteer from the same families	Biological: blood sample; Peripheral whole blood sample, 5 ml

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. The identification of a deleterious mutation of a gene coding a protein present in the cochlea [ Time Frame: 1 day ]

Secondary Outcome Measures :

1. The phenotype genotype relationships after identification of the causative gene and mutation [ Time Frame: 1 day ]

Biospecimen Retention:   Samples With DNA

Peripheral whole blood

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	4 Years and older (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

families with non syndromic dominant hearing impairment followed by the clinical investigators

Criteria

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

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

France
Hôpital Armand-Trousseau, Service d'ORL pédiatrique et de Chirurgie Maxillo Faciale
Paris, France, 75012

Sponsors and Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

Principal Investigator:	Françoise Denoyelle, MD, PhD	Assistance Publique - Hôpitaux de Paris

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:	NCT01150305 History of Changes
Other Study ID Numbers:	AOM 08041
First Posted:	June 24, 2010
Last Update Posted:	August 7, 2013
Last Verified:	August 2013

Keywords provided by Assistance Publique - Hôpitaux de Paris:

Autosomal dominant inheritance; Mutation; Prevalence

Additional relevant MeSH terms:

Deafness; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases	Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms