Scientists hunt for gene behind severe childhood deafness
NCT ID NCT04202185
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This completed study looked at 150 children with severe to profound hearing loss to find how many have a specific genetic form called DFNB9. Researchers collected medical and genetic data from routine care. The goal was to better understand this condition and pave the way for future treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help identify children with DFNB9 earlier, potentially guiding future gene therapy efforts for this specific form of deafness.
- What could go wrong
- This is an observational study, not a treatment trial. It only looks for a genetic cause and does not test any therapy. The findings may not lead to a treatment.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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150 people
The number who actually took part.
- Started
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Apr 2020
- Finished
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Dec 2024
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patient coming to the Necker Hospital for a deafness visit or for a check-up prior to a cochlear implantation
- Ages
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Up to 25 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
G1a / Inclusion Criteria: * Child from 0 to 3 years old * Child with severe to profound bilateral deafness newly diagnosed with: * Average hearing threshold\> 70 decibel on each ear * and / or no response to 70 decibel PEA on each ear * and / or no response to ASSR G1b / Inclusion Criteria: * Child under 16 * Child with newly diagnosed hearing neuropathy : tonal/vocal dissociation (when this is possible), and/or modified PEA, and/or discordant ASSR, and/or OEA present. G2 / Inclusion Criteria: * Adult patient under 25 or child * Patient with deafness with auditory neuropathy * Patient known to have 1 or 2 mutations of the otoferlin protein Exclusion Criteria: * Other type of deafness such as : unilateral deafness, deafness of transmission, malformation syndrome, known genetic familial deafness not DFNB9 * Patient without medical insurance * Lack of consent to DNA sampling, of one or both biological parents (consent of the care)
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Unité d'Audiophonologie et d'Implantation cochléaire - Necker hospital
Paris, 75015, France