Epidemiology of Non-syndromic Dominant Deafness

NCT01150305 | Completed

• 1 other identifier: AOM 08041
• Study Type: observational
• Target: 183
• Locations: 1 country
• Sites: 1

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.

Conditions

Hearing Impairment

Keywords

Autosomal dominant inheritance; Mutation; Prevalence

Outcome Measures

Primary Outcomes (1)

• The identification of a deleterious mutation of a gene coding a protein present in the cochlea

  1 day

Secondary Outcomes (1)

• The phenotype genotype relationships after identification of the causative gene and mutation

  1 day

Study Arms (2)

1

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

Biological: blood sample

2

Healthy volunteer from the same families

Biological: blood sample

Interventions

blood sample BIOLOGICAL

Peripheral whole blood sample, 5 ml

1; 2

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

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

Paris, 75012, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral whole blood

MeSH Terms

Conditions

Hearing Loss; Multiple Pterygium Syndrome, Autosomal Dominant

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Françoise Denoyelle, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 29, 2010
• First Posted: June 24, 2010
• Study Start: April 1, 2009
• Primary Completion: April 1, 2012
• Study Completion: April 1, 2012
• Last Updated: August 7, 2013

Record last verified: 2013-08

Locations

FR (1)