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Exome Analysis in Hearing Impaired Patients

NCT03557879 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2018-06-15

No results posted yet for this study

Summary

Hearing impairment is the most frequent sensory deficit in humans and affects one newborn out of 500. The prevalence rises to 3,5/1000 in teenagers due to retarded forms. Most of hearing impairments (about two thirds) have a genetic origin, with recessive, dominant or X-linked mode of inheritance. Some rare forms can be linked to mitochondrial DNA. Molecular diagnosis (i.e. defining the molecular basis of the disease, genes and precise DNA variants) is essential for the follow-up of patients and families.

The project intends to perform exome sequencing on 30 samples of families presenting with hearing impairment. Families have been included based on the genetic origin of the hearing impairment (familial cases) and the exclusion of the involvement of 74 known deafness genes. Exome sequencing (sequencing of the coding regions of all known genes, about 22,000) in these cases may underly new gene/disease relationships.

Conditions

Interventions

GENETIC

Exome sequencing

DNA extracted from samples will undergo exome sequencing, i.e. sequencing of the coding regions of all known human genes (about 22,000)

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Anne Françoise ROUX · University Hospital, Montpellier

Eligibility

Min Age
5 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-06-04
Primary Completion
2018-12-31
Completion
2019-06-01

Countries

  • France

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03557879 on ClinicalTrials.gov