Epidemiology of Non-syndromic Dominant Deafness - Full Text View

Purpose

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	Intervention
Hearing Impairment	Biological: blood sample


Study Type:	Observational
Study Design:	Observational Model: Case Control Time Perspective: Cross-Sectional
Official Title:	Genetic Epidemiology of Non-syndromic Dominant Deafness

Resource links provided by NLM:

Genetics Home Reference related topics: nonsyndromic hearing loss

MedlinePlus related topics: Hearing Disorders and Deafness

U.S. FDA Resources

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:

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

Secondary Outcome Measures:

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

Biospecimen Retention: Samples With DNA

Peripheral whole blood


Enrollment:	183
Study Start Date:	April 2009
Study Completion Date:	April 2012
Primary Completion Date:	April 2012 (Final data collection date for primary outcome measure)

Groups/Cohorts	Assigned Interventions
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

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.

Eligibility


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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01150305

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


Responsible Party:	Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:	NCT01150305 History of Changes
Other Study ID Numbers:	AOM 08041
Study First Received:	March 29, 2010
Last Updated:	August 6, 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

ClinicalTrials.gov processed this record on September 21, 2017

Epidemiology of Non-syndromic Dominant Deafness (SURDOM)