Epidemiology of Non-syndromic Dominant Deafness

Hearing Impairment Clinical Trial

— SURDOM  

Official title:

Genetic Epidemiology of Non-syndromic Dominant Deafness

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01150305
• Other study ID #: AOM 08041
• Status: Completed
• Phase: N/A
• First received: March 29, 2010
• Last updated: August 6, 2013
• Start date: April 2009
• Est. completion date: April 2012

Study information

• Verified date: August 2013
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 183
• Est. completion date: April 2012
• Est. primary completion date: April 2012
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 4 Years and older

Eligibility

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

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Deafness
• Hearing Impairment
• Hearing Loss

Intervention

Biological:
• blood sample
Peripheral whole blood sample, 5 ml

Locations

Country	Name	City	State
France	Hôpital Armand-Trousseau, Service d'ORL pédiatrique et de Chirurgie Maxillo Faciale	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The identification of a deleterious mutation of a gene coding a protein present in the cochlea		1 day	No
Secondary	The phenotype genotype relationships after identification of the causative gene and mutation		1 day	No