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Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9

NCT04202185 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2026-02-13

No results posted yet for this study

Summary

Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9).

Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for DFNB9. The investigators expect to compile genotypic and phenotypic characterization of 25 children with DFNB9 within 4 years.

Conditions

  • Congenital Profound Hearing Loss

Interventions

OTHER

Data collection

Retrospective collection data from diagnostic Data collected following to medical exam as part of care

GENETIC

Genetic analysis

Research of mutation and identification of genetic panel as part of care

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Nathalie LOUNDON, MD · Assistance Publique - Hôpitaux de Paris

Eligibility

Max Age
25 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-04-02
Primary Completion
2023-10-22
Completion
2024-12-06

Countries

  • France

Study Locations

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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 NCT04202185 on ClinicalTrials.gov