Epidemiology of Non-syndromic Dominant Deafness (SURDOM)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01150305
First received: March 29, 2010
Last updated: August 6, 2013
Last verified: August 2013
  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:


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 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • The phenotype genotype relationships after identification of the causative gene and mutation [ Time Frame: 1 day ] [ Designated as safety issue: No ]

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
Other Name: blood sample
2
Healthy volunteer from the same families
Biological: blood sample
Peripheral whole blood sample, 5 ml
Other Name: 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.

  Eligibility

Ages Eligible for Study:   4 Years and older
Genders Eligible for Study:   Both
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

No publications provided

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
Health Authority: France: Ministry of Health

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 October 01, 2014