Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Look… (NCT04202185) | Clinical Trial Compass
CompletedNot Applicable
Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9
France150 participantsStarted 2020-04-02
Plain-language 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.
Who can participate
Age range
25 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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)
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.