DFNB9NCT06722170
A Study of EH002 Gene Therapy for Otoferlin Gene Mutation-mediated Hearing Loss
A study testing EH002 administration in people with DFNB9 and Congenital Hearing Loss, run by Yilai Shu at 2 sites in China.
Trial summary
The study is designed to evaluate the safety, tolerability, and preliminary efficacy of EH002 for the treatment of congenital deafness caused by mutations in the OTOF gene. Participants may receive one or two injections of the EH002 gene therapy in one or both ears. Read more about this study
- Who is it for?
- Ages 6 months and older
- Conditions the study is for
- DFNB9, Congenital Hearing Loss, Hearing Loss, Sensorineural
- What is being tested?
- EH002 administration
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 24 participants
- Where
- 2 sitesChina
- Study dates
- 22 Nov 2024to Nov 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- The participant and/or their legal guardian must provide informed consent before the study, voluntarily sign the written informed consent form, and be willing to attend follow-up visits as scheduled by the study.
- The participant must communicate effectively with the investigator and comply with the investigator's requirements, with the assistance of a legal guardian if necessary. Young children without mature language skills must be able to cooperate and comply with the investigator's requirements with the help of a legal guardian.
- The participant and/or legal guardian must understand the study correctly and have appropriate expectations regarding the potential benefits.
- The participant must be at least 6 months old, with no restrictions on gender.
- The participant must be diagnosed with DFNB9 congenital deafness, confirmed by genetic testing showing homozygous or compound heterozygous mutations in the OTOF gene.
- Audiological inclusion criteria: Severe or profound hearing loss (≥65 dB).
- The participant must meet the surgical requirements, including the absence of middle- or inner-ear malformations, vestibulocochlear nerve developmental abnormalities, and ear inflammation, as confirmed by CT or MRI scans within 3 months or at the time of screening. Additionally, the participant must be deemed eligible for surgery.
Who cannot join
- The genetic diagnosis does not indicate an OTOF mutation.
- Other types of deafness that are unsuitable for otological surgery, such as middle- or inner-ear developmental abnormalities or malformations, vestibulocochlear nerve abnormalities, conductive hearing loss, mixed hearing loss, or malformation syndromes, as detected by CT or MRI scans within 3 months.
- Pre-existing otological conditions that would interfere with the planned surgery or the interpretation of study endpoints, such as acute or chronic otitis media, Meniere's disease, acoustic neuroma, or unrecovered sudden sensorineural hearing loss.
- A history of substance abuse, or treatment with any known ototoxic drugs (e.g., aminoglycosides, cisplatin, loop diuretics) within the last 6 months, or antiviral medications or immunotherapy within the last 3 months, or vaccination within the last month.
- Individuals with compromised immunity or a history of immunodeficiency, including HIV-positive status, other acquired or congenital immunodeficiency disorders, or a history of organ transplantation.
- Patients with severe systemic diseases or severe acute illnesses, such as tuberculosis, active hepatitis B or C infection, active herpes zoster infection, pancreatitis, renal insufficiency, or gastrointestinal ulcers.
Show all 15Show fewer
- Patients with surgical or anesthetic contraindications as determined by the surgeon, anesthesiologist, or designated personnel. This includes those who have had a cardiovascular or cerebrovascular event within the last 6 months, such as myocardial infarction, heart failure, angina, stroke, transient ischemic attack, or any other cardiac condition deemed unsuitable by the investigator or an allergy to any planned medications.
- Currently participating in or planning to participate in any interventional clinical trial involving drugs or devices within the next year or having received the last dose of another clinical trial within 5 half-lives.
- Presence of an implant in the ear (on the side intended for surgery) at the time of screening, such as a cochlear implant.
- Neutralizing antibody titer against AAV1 >1:2000.
- Presence of other severe congenital disorders.
- A history of definite neurological or psychiatric disorders, including epilepsy or dementia.
- Patients requiring long-term anticoagulant therapy that cannot be temporarily discontinued.
- A history of chemotherapy or radiation therapy.
- Any other condition that, in the opinion of the investigator, makes the participant unsuitable for this clinical study.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
China2 sites, 2 recruiting
- Recruiting
Eye & ENT Hospital of Fudan University
Shanghai, Shanghai Municipality, 200031
Yilai Shu, M.D. & Ph.D., +86 021 64377134, yilai_shu@fudan.edu.cn
- Recruiting
The First Affiliated Hospital of Zhengzhou University
Zhengzhou, Henan
Rongqun Zhai, Dr., +86 0371-66913114, rongqunzhai2009@126.com
About this study
Official title: A Study on the Safety, Tolerability, and Preliminary Efficacy of EH002 in the Treatment of DFNB9 Congenital Deafness
The study is designed to evaluate the safety, tolerability, and preliminary efficacy of EH002 for the treatment of congenital deafness caused by mutations in the OTOF gene. Participants may receive one or two injections of the EH002 gene therapy in one or both ears.
- Conditions
- DFNB9, Congenital Hearing Loss, Hearing Loss, Sensorineural
- Being tested
- EH002 administration
- Medical subject headings
- Hearing Loss, Sensorineural
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EH002 administrationGenetic
EH002 was administered into one or both ears via intracochlear injection.
| Study group | Role | What they receive |
|---|---|---|
| Dose escalation: 50-μl dose group | Experimental | Not described Receives: Genetic: EH002 administration |
| Dose escalation: 100-μl dose group | Experimental | Not described Receives: Genetic: EH002 administration |
| Dose escalation: 150-μl dose group | Experimental | Not described Receives: Genetic: EH002 administration |
| Dose escalation: 25-μl dose group | Experimental | Not described Receives: Genetic: EH002 administration |
What is being measured
The primary outcome is the main question the study is designed to answer.
The incidence of dose-limited toxicity and the incidence of serious adverse events or adverse events
Measured: 26 weeks
Secondary outcomes (1)
Changes in hearing level relative to baseline level
Measured: 26 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Dec 2024
- Study start22 Nov 2024
- Primary completionNov 2027 (estimated)
- Study completionNov 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DFNB9Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 24 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Yilai Shu
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Yilai Shu, Eye & ENT Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06722170
- Sponsor's protocol ID
- 2024199
- Status last verified
- Jul 2025
- First submitted
- 5 Dec 2024
- Last updated
- 25 Jul 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study on the Safety, Tolerability, and Preliminary Efficacy of EH002 in the Treatment of DFNB9 Congenital Deafness
- ClinicalTrials.gov ID
- NCT06722170
- Acronym / sponsor ID
- 2024199
- Conditions
- DFNB9, Congenital Hearing Loss, Hearing Loss, Sensorineural
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 24 participants (estimated)
- Lead sponsor
- Yilai ShuUniversity, hospital or other
- Study start
- 22 Nov 2024 (actual)
- Primary completion
- Nov 2027 (estimated)
- Study completion
- Nov 2029 (estimated)
- First posted
- 9 Dec 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The study is designed to evaluate the safety, tolerability, and preliminary efficacy of EH002 for the treatment of congenital deafness caused by mutations in the OTOF gene. Participants may receive one or two injections of the EH002 gene therapy in one or both ears.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Dose escalation: 50-μl dose group | Experimental | Genetic: EH002 administration |
| Dose escalation: 100-μl dose group | Experimental | Genetic: EH002 administration |
| Dose escalation: 150-μl dose group | Experimental | Genetic: EH002 administration |
| Dose escalation: 25-μl dose group | Experimental | Genetic: EH002 administration |
Who may qualify
- Ages
- 6 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- The participant and/or their legal guardian must provide informed consent before the study, voluntarily sign the written informed consent form, and be willing to attend follow-up visits as scheduled by the study.
- The participant must communicate effectively with the investigator and comply with the investigator's requirements, with the assistance of a legal guardian if necessary. Young children without mature language skills must be able to cooperate and comply with the investigator's requirements with the help of a legal guardian.
- The participant and/or legal guardian must understand the study correctly and have appropriate expectations regarding the potential benefits.
- The participant must be at least 6 months old, with no restrictions on gender.
- The participant must be diagnosed with DFNB9 congenital deafness, confirmed by genetic testing showing homozygous or compound heterozygous mutations in the OTOF gene.
Key exclusion criteria (15 listed)
- The genetic diagnosis does not indicate an OTOF mutation.
- Other types of deafness that are unsuitable for otological surgery, such as middle- or inner-ear developmental abnormalities or malformations, vestibulocochlear nerve abnormalities, conductive hearing loss, mixed hearing loss, or malformation syndromes, as detected by CT or MRI scans within 3 months.
- Pre-existing otological conditions that would interfere with the planned surgery or the interpretation of study endpoints, such as acute or chronic otitis media, Meniere's disease, acoustic neuroma, or unrecovered sudden sensorineural hearing loss.
- A history of substance abuse, or treatment with any known ototoxic drugs (e.g., aminoglycosides, cisplatin, loop diuretics) within the last 6 months, or antiviral medications or immunotherapy within the last 3 months, or vaccination within the last month.
- Individuals with compromised immunity or a history of immunodeficiency, including HIV-positive status, other acquired or congenital immunodeficiency disorders, or a history of organ transplantation.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| EH002 administrationEH002 was administered into one or both ears via intracochlear injection. | Genetic | Dose escalation: 100-μl dose group, Dose escalation: 150-μl dose group, Dose escalation: 25-μl dose group, Dose escalation: 50-μl dose group |
Primary outcome
The incidence of dose-limited toxicity and the incidence of serious adverse events or adverse events
Time frame: 26 weeks
1 secondary outcome
Changes in hearing level relative to baseline level
Time frame: 26 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Jul 2025.
- Individual participant dataSharing planned: No
Related trials for DFNB9
Enrolling by invitationObservational study
Long Term Follow-up Study of AAVAnc80-hOTOF Gene Therapy
Otoferlin Gene-mediated Hearing Loss
RecruitingPhase 3
Gene Therapy Trial for Otoferlin Gene-mediated Hearing Loss
Sensorineural Hearing Loss, Bilateral
RecruitingObservational study
Auditory Restoration and Outcomes After Gene Therapy and Cochlear Implantation: a PRospective Cohort Analysis (AURORA)
Hearing Loss, Genetic Disease
Not yet recruitingObservational study
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy
Active, not recruiting
Safety, Tolerability, Efficacy of EA0010 in OTOF Patients With CI
DFNB9, Cochlear Implantation
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing EH002 administration in people with DFNB9 and Congenital Hearing Loss, run by Yilai Shu at 2 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 15 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 25 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yilai Shu, M.D. & Ph.D. (+86 021 64377134, yilai_shu@fudan.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The incidence of dose-limited toxicity and the incidence of serious adverse events or adverse events (time frame: 26 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Jul 2025.