Genetic Disease, Hearing Loss, Speech Perception
Conditions
Keywords
Congenital Hearing Loss, DFNB9, Gene Therapy, Cochlear Implant, Speech Perception
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.
Detailed description
Cochlear implant patients exhibit improved speech perception in quiet environments after surgery, but their music perception and speech perception under noise are still unsatisfactory. Gene therapy is a novel and promising treatment for congenital hearing loss to recover natural hearing sensations. To date, for patients with congenital deafness, there has been no study on their ability to perceive and understand sounds, such as speech perception in noise, music and directional perception, after hearing recovery owing to gene therapy. In addition, the difference between the two treatments in those perceptual levels postoperatively remains unknown. Therefore, the investigators designed a single-center cohort study. Based on the intervention method, congenital deafness patients are divided into two groups: the cochlear implant group and the gene therapy group. In the present study, a full-scale evaluation of the two groups will be conducted. The battery encompasses auditory speech perception, cognition, psychological status, and auditory cortex development. A comparative analysis will be conducted to examine multidimensional differences between the two groups, shedding light on the divergent outcomes of gene therapy and cochlear implants for patients with congenital deafness.
Interventions
None listed
Sponsors
Eye & ENT Hospital of Fudan University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Months to No maximum
Healthy volunteers
Yes
Inclusion criteria
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, 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 with the assistance of their guardians 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.
Exclusion criteria
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 revealed by CT/MRI scans performed within the past 3 months that may affect the therapeutic effect, vestibular-cochlear nerve abnormalities, acute/chronic otitis media, Meniere's disease, etc. Presence of other severe congenital diseases. Presence of severe systemic diseases or diseases in the acute phase, 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 to surgery or anesthesia, as 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Auditory speech perception | Preoperatively and at 13, 26, and 52 weeks postoperatively, with subsequent assessments every 6 or 12 months up to 5 years after treatment. | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Growth and development assessment | Preoperatively and at 13, 26, and 52 weeks postoperatively, with subsequent assessments every 6 or 12 months up to 5 years after treatment. | Griffiths development scales(GDS)/Wechsler Intelligence Scale for Children, 4e (WISC-IV): the GDS (0\~6 years old)/ WISC-IV (8-16 years old) is a cognitive function test. For children aged 6-8 years, the assessment instrument was selected according to their developmental status and ability to cooperate with the testing procedures. |
| Psychological status | Preoperatively and at 13, 26, and 52 weeks postoperatively, with subsequent assessments every 6 or 12 months up to 5 years after treatment. | Strengths and Difficulties Questionnaire(SDQ): the SDQ is a psychological status test with a total score of 25 points. The lower the score the better the psychological status. |
| Cortical auditory processing | Preoperatively and at 13, 26, and 52 weeks postoperatively, with subsequent assessments every 6 or 12 months up to 5 years after treatment. | Electroencephalogram (EEG): the EEG is a non-invasive brain imaging method that uses brain maps to assess changes in auditory and speech-related cortex. |
Countries
China
Contacts
CONTACTYilai Shu, M.D. & Ph.D.
STUDY_CHAIRYilai Shu, M.D. & Ph.D.
Eye & ENT Hospital of Fudan University
Outcome results
None listed