Exome Analysis in Hearing Impaired Patients

NCT03557879 | Unknown

• 1 other identifier: UF96802
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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

Hearing Impairment

Keywords

Hearing impairment; familial

Outcome Measures

Primary Outcomes (1)

• identification of candidate genes

  Description: a candidate gene would present a genotype (combination of DNA variants) compatible with the transmission mode and several lines of evidence of the pathogenic effect of the DNA variants

  1 day

Secondary Outcomes (2)

• Quality assessment of the exome sequencing

  1 day

• Quality assessment of the bioinformatics pipelines used

  1 day

Study Arms (1)

Hearing impaired families

Samples from families presenting with familial hearing impairment, underlying the genetic basis, for whom 74 deafness genes have already been excluded (no evidence of pathogenic genotype)

Genetic: Exome sequencing

Interventions

Exome sequencing GENETIC

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

Hearing impaired families

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Hearing impaired patients and relatives

You may qualify if:

• Families presenting with familial hearing impairment, underlying the genetic basis, for whom 74 deafness genes have already been excluded (no evidence of pathogenic genotype)

You may not qualify if:

• \- sporadic cases of hearing impairment, or resolved familial cases

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

Uhmontpellier

Montpellier, 34295, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Hearing Loss

Interventions

Exome Sequencing

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)

Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Anne Françoise ROUX

  University Hospital, Montpellier

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 4, 2018
• First Posted: June 15, 2018
• Study Start: June 4, 2018
• Primary Completion: December 31, 2018
• Study Completion: June 1, 2019
• Last Updated: June 15, 2018

Record last verified: 2018-06

Locations

FR (1)