Actively Recruiting

Phase Not Applicable
Age: 6Months +
All Genders
NCT06722170

A Study of EH002 Gene Therapy for Otoferlin Gene Mutation-mediated Hearing Loss

Led by Yilai Shu · Updated on 2025-07-25

24

Participants Needed

2

Research Sites

257 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

A Study of EH002 Gene Therapy for Otoferlin Gene Mutation-mediated Hearing Loss

Who Can Participate

Age: 6Months +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Participant or legal guardian must provide informed consent and agree to follow-up visits
  • Participant must communicate effectively and comply with study requirements, with guardian assistance if needed
  • Participant or guardian must understand the study and have appropriate expectations
  • Participant must be at least 6 months old with no gender restrictions
  • Diagnosis of DFNB9 congenital deafness confirmed by genetic testing showing OTOF gene mutations
  • Severe or profound hearing loss of 65 dB or greater
  • Must meet surgical requirements including no middle- or inner-ear malformations, no vestibulocochlear nerve abnormalities, no ear inflammation, confirmed by CT or MRI within 3 months or at screening
  • Participant must be eligible for surgery
Not Eligible

You will not qualify if you...

  • Genetic diagnosis does not indicate an OTOF mutation
  • Other types of deafness unsuitable for ear surgery, including middle- or inner-ear abnormalities, vestibulocochlear nerve abnormalities, conductive or mixed hearing loss, or malformation syndromes
  • Pre-existing ear conditions interfering with surgery or study outcomes, such as otitis media, Meniere's disease, acoustic neuroma, or unrecovered sudden sensorineural hearing loss
  • History of substance abuse or treatment with ototoxic drugs in last 6 months, antiviral or immunotherapy in last 3 months, or vaccination in last month
  • Compromised immunity or immunodeficiency disorders including HIV, or history of organ transplantation
  • Severe systemic diseases or acute illnesses such as tuberculosis, active hepatitis B or C, herpes zoster, pancreatitis, kidney failure, or gastrointestinal ulcers
  • Surgical or anesthetic contraindications, including recent cardiovascular or cerebrovascular events or allergies to planned medications
  • Participation in other interventional clinical trials within next year or recent trial dose within 5 half-lives
  • Presence of an implant in the ear intended for surgery, such as cochlear implants
  • Neutralizing antibody titer against AAV1 greater than 1:2000
  • Presence of other severe congenital disorders
  • History of neurological or psychiatric disorders including epilepsy or dementia
  • Requirement for long-term anticoagulant therapy that cannot be paused
  • History of chemotherapy or radiation therapy
  • Any other condition making participant unsuitable per investigator judgment

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 2 locations

1

The First Affiliated Hospital of Zhengzhou University

Zhengzhou, Henan, China

Actively Recruiting

2

Eye & ENT Hospital of Fudan University

Shanghai, Shanghai Municipality, China, 200031

Actively Recruiting

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Research Team

Y

Yilai Shu, M.D. & Ph.D.

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NON_RANDOMIZED

Model

SEQUENTIAL

Primary Purpose

TREATMENT

Number of Arms

4

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