A Comparative Analysis of Speech Perception Between Cochlear Implant Patients and DFNB9 Patients Receiving Gene Therapy

NCT06237790 | Recruiting DMC

• 1 other identifier: 2023185-1
• Study Type: observational
• Target: 180
• Locations: 1 country
• Sites: 6

Brief Summary

This cohort study aims to explore the trends and differences in multidimensional perceptual levels of patients after cochlear implants or gene therapy, as well as to comprehensively assess the efficacy of gene therapy for congenital deafness, thus providing a reference for making a well-rounded postoperative rehabilitation protocol for gene therapy patients.

Conditions

Hearing Loss; Genetic Disease; Speech Perception

Keywords

Congenital Hearing Loss; DFNB9; Gene Therapy; Cochlear Implant; Speech Perception

Outcome Measures

Primary Outcomes (7)

• Auditory speech perception

  Meaningful Auditory Integration Scale (MAIS)/Infant-toddler Meaningful Auditory Integration Scale (IT-MAIS): the MAIS (≥3 years old)/IT-MAIS (0\~3 years old) is an auditory perception test with a total score of 40 points. The higher the score the better the hearing ability.

  Preoperation, week 13, week 26 and week 52

• Auditory speech perception

  Categories of Auditory Performance (CAP): the CAP is an auditory perception test with a total levels of 8. The higher the level the better the hearing ability.

  Preoperation, week 13, week 26 and week 52

• Auditory speech perception

  Speech Intelligibility Rating (SIR): the SIR is a speech perception test with a total levels of 5. The higher the level the better the hearing ability.

  Preoperation, week 13, week 26 and week 52

• Auditory speech perception

  Meaningful Use of Speech Scale (MUSS): the MUSS is a speech perception test with a total score of 50 points. The higher the score the better the hearing ability.

  Preoperation, week 13, week 26 and week 52

• Auditory speech perception

  Speech, Spatial, and Other Qualities of Hearing Scale for Parents (SSQ-P): the SSQ-P is an auditory speech and sound location perception test with a total score of 10 points. The higher the score the better the auditory speech and sound location ability.

  Preoperation, week 13, week 26 and week 52

• Auditory speech perception

  Mandarin Speech Perception (MSP): the MSP is a speech test software included the perception tests of monosyllable, disyllable and sentence recognition in quiet and noise environment. The higher the score the better the auditory speech ability.

  Preoperation, week 13, week 26 and week 52

• Auditory speech perception

  The Angel Test: the Angel Test is a speech test software included the perception tests of environmental sound test, final recognition test, initial recognition test and lexical tone test in quiet environment. The higher the score the better the auditory speech ability.

  Preoperation, week 13, week 26 and week 52

Secondary Outcomes (4)

• Cognitive function

  Preoperation, week 13, week 26 and week 52

• Psychological status

  Preoperation, week 26 and week 52

• Auditory cortex development

  Preoperation, week 13, week 26 and week 52

• Auditory cortex development

  Preoperation, week 13, week 26 and week 52

Study Arms (2)

Gene Therapy Group

The study will recruit gene therapy patients who are definitely diagnosed with autosomal recessive deafness 9 (DFNB9).

Cochlear Implant Group

The study will recruit cochlear implant patients with congenital deafness.

Eligibility Criteria

• Age: 6 Months+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The number of enrollments in the gene therapy group is expected to be 90, and that of the cochlear implant group is expected to be at least 90, according to the pairing ratio of at least 1:1 between the cochlear implant group and gene therapy group. An estimated 30 healthy subjects are expected to be recruited (optional, subject to recruitment feasibility) for electroencephalography and/or functional near-infrared spectroscopy assessments.

You may qualify if:

• Patients with congenital hearing loss with hearing thresholds ≥65 dB receive either gene therapy (previously received gene therapy and standardized postoperative rehabilitation and follow-up or plan to receive gene therapy), or cochlear implant surgery. Healthy participants with bilateral hearing thresholds within the normal range (≤20 dB), generally matched to the gene therapy group and the cochlear implant group by age and sex.
• Age ≥ 6 months old, regardless of gender.
• Mandarin Chinese as the native language.
• Participants and their guardians must provide informed consent before the trial, voluntarily sign a written consent form, and commit to follow-up at specified time points.
• Capable of effective communication with researchers under the guardian's assistance and willing to cooperate and comply with the researchers' requirements.
• The participant's guardians should have a correct understanding of the trial and appropriate expectations regarding potential benefits.

You may not qualify if:

• Presence of other otological disorders that may interfere with the surgical outcome or interpretation of study endpoints, such as middle/inner ear dysplasia or malformations that affected the therapeutic effect revealed in CT/MRI scans within 3 months, vestibular-cochlear nerve abnormalities, acute/chronic otitis media, Meniere's disease, etc.
• Presence of other severe congenital diseases.
• Presence of severe systemic diseases or in the acute onset of diseases, such as pulmonary tuberculosis, active hepatitis B or C infection, active herpes zoster infection, pancreatitis, renal insufficiency, etc.
• Individuals with low immunity, a history of immune deficiency or organ transplantation.
• Individuals with a history of neurological or mental disorders, such as epilepsy or dementia.
• Patients with contraindications for surgery or anesthesia assessed by a surgeon, anesthetist, or designated personnel, such as cardiovascular or cerebrovascular events in the past 6 months, allergies to the planned medications, etc.
• Gene therapy group: gene therapy did not restore hearing; Cochlear implant group: presence of hereditary syndromic deafness or other conditions that seriously affect the efficacy evaluation.
• Any other conditions for which the investigators consider the subject unsuitable for participation in this clinical study.

Sponsors & Collaborators

• Eye & ENT Hospital of Fudan University: lead

Study Sites (6)

Peking Union Medical College Hospital

Beijing, Beijing Municipality, 100730, China

NOT YET RECRUITING

The First Affiliated Hospital of Zhengzhou University

Zhengzhou, Henan, 450052, China

NOT YET RECRUITING

The Second Xiangya Hospital of Central South University

Changsha, Hunan, 410011, China

NOT YET RECRUITING

The First Affiliated Hospital of Nanchang University

Nanchang, Jiangxi, 330006, China

NOT YET RECRUITING

Eye & ENT Hospital of Fudan University

Shanghai, Shanghai Municipality, 200031, China

RECRUITING

West China Hospital, Sichuan University

Chengdu, Sichuan, 610041, China

NOT YET RECRUITING

MeSH Terms

Conditions

Hearing Loss; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Yilai Shu, M.D. & Ph.D.

  Eye & ENT Hospital of Fudan University

  STUDY CHAIR

Central Study Contacts

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

CONTACT

+86 21 6437 7134; yilai_shu@fudan.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 26, 2023
• First Posted: February 1, 2024
• Study Start: April 6, 2024
• Primary Completion: October 3, 2025
• Study Completion (Estimated): December 22, 2026
• Last Updated: September 4, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

CN (6)