Epidemiology of Non-syndromic Dominant Deafness (SURDOM)
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ClinicalTrials.gov Identifier: NCT01150305 |
Recruitment Status
:
Completed
First Posted
: June 24, 2010
Last Update Posted
: August 7, 2013
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Condition or disease | Intervention/treatment |
---|---|
Hearing Impairment | Biological: blood sample |
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 |

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
|
- The identification of a deleterious mutation of a gene coding a protein present in the cochlea [ Time Frame: 1 day ]
- The phenotype genotype relationships after identification of the causative gene and mutation [ Time Frame: 1 day ]
Biospecimen Retention: Samples With DNA

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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 |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01150305
France | |
Hôpital Armand-Trousseau, Service d'ORL pédiatrique et de Chirurgie Maxillo Faciale | |
Paris, France, 75012 |
Principal Investigator: | Françoise Denoyelle, MD, PhD | Assistance Publique - Hôpitaux de Paris |
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 Key Record Dates |
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 |