Hearing LossNCT05970445
Clinical Phenotypic Characteristics of SC26A4
An observational study of Hearing Loss and Pendred Syndrome, run by Chinese PLA General Hospital at 1 site in China.
Trial summary
The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hearing Loss, Pendred Syndrome
- How many people
- 300 participants
- Where
- 1 siteChina
- Study dates
- 15 May 2023to 31 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Because the influencing factors and pathological mechanisms of PS/NSEVA patients are intricate, there are many controversies regarding the relationship between the SLC26A4 gene, the degree of hearing loss experienced by PS/NSEVA patients, and the relationship between inner ear imaging and audiology.
Who may be able to join
- Patients with Enlarged Vestibular Aqueduct;
- Patients with hearing loss;
- Patients with results of SLC26A4 sequencing;
Who cannot join
- Subjects will be excluded from this study if any of the following are present:
- Audiometric data is incomplete
- Incomplete basic information
- Patients who did not undergo HRCT
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)
The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.
Read the detailed description
To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutation and clinical phenotypic characteristics of Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA) patients and provide evidence supporting the clinical diagnosis and genetic counseling of patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.
- Conditions
- Hearing Loss, Pendred Syndrome
- Medical subject headings
- Hearing Loss, Pendred syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with enlarged vestibular aqueduct | This study will analyze the SLC26A4 mutation, and audiological and imaging characteristics of PS/NSEVA to summarize the clinical manifestations of PS/NSEVA patients. The study also will analyze the effects of SLC26A4 mutation and inner ear imaging on the degree of hearing loss in PS/NSEVA patients to provide predictive measures for the genetic diagnosis and clinical phenotype of PS/NSEVA. Finally, the effects of sex and age on the degree of hearing loss in patients with PS/NSEVA will be analyzed to provide insight on PS/NSEVA pathogenesis. |
What is being measured
The primary outcome is the main question the study is designed to answer.
SLC26A4 sequencing
Extraction from patient clinical information database and secondary use. From each patient included in the study, 3 ml of peripheral blood was collected and the DNA extracted for the diagonosis in the past.
Measured: through study completion, an average of 0.5 year
High-resolution computed tomography of the temporal bone
Extraction from patient clinical information database and secondary use. High-resolution computed tomography of the temporal bone is used to measure the width of the vestibular aqueduct (VA) in the left and right ears to determine whether other inner ear malformations exist.
Measured: through study completion, an average of 0.5 year
Hearing test
Extraction from patient clinical information database and secondary use. The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.
Measured: through study completion, an average of 0.5 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Aug 2023
- Study start15 May 2023
- Primary completion1 Aug 2023
- Study completion31 Aug 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hearing LossStudies of the same condition, open and under way.
- More trials run by Chinese PLA General HospitalThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chinese PLA General Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Shiming Yang, PhD, Chinese PLA General Hospital
- Investigators
- Shiming Yang, Study chair, Chinese PLA General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05970445
- Sponsor's protocol ID
- PS/NSEVA-01
- Status last verified
- Aug 2023
- First submitted
- 12 Jun 2023
- Last updated
- 23 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)
- ClinicalTrials.gov ID
- NCT05970445
- Acronym / sponsor ID
- PS/NSEVA-01
- Conditions
- Hearing Loss, Pendred Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Chinese PLA General HospitalUniversity, hospital or other
- Study start
- 15 May 2023 (actual)
- Primary completion
- 1 Aug 2023 (actual)
- Study completion
- 31 Aug 2023 (estimated)
- First posted
- 1 Aug 2023 (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 presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.
Detailed description
To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutation and clinical phenotypic characteristics of Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA) patients and provide evidence supporting the clinical diagnosis and genetic counseling of patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with enlarged vestibular aqueduct | – | –This study will analyze the SLC26A4 mutation, and audiological and imaging characteristics of PS/NSEVA to summarize the clinical manifestations of PS/NSEVA patients. The study also will analyze the effects of SLC26A4 mutation and inner ear imaging on the degree of hearing loss in PS/NSEVA patients to provide predictive measures for the genetic diagnosis and clinical phenotype of PS/NSEVA. Finally, the effects of sex and age on the degree of hearing loss in patients with PS/NSEVA will be analyzed to provide insight on PS/NSEVA pathogenesis. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Because the influencing factors and pathological mechanisms of PS/NSEVA patients are intricate, there are many controversies regarding the relationship between the SLC26A4 gene, the degree of hearing loss experienced by PS/NSEVA patients, and the relationship between inner ear imaging and audiology.
Key inclusion criteria (3 listed)
- Patients with Enlarged Vestibular Aqueduct;
- Patients with hearing loss;
- Patients with results of SLC26A4 sequencing;
Key exclusion criteria (4 listed)
- Audiometric data is incomplete
- Incomplete basic information
- Patients who did not undergo HRCT
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
SLC26A4 sequencing
Time frame: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. From each patient included in the study, 3 ml of peripheral blood was collected and the DNA extracted for the diagonosis in the past.
High-resolution computed tomography of the temporal bone
Time frame: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. High-resolution computed tomography of the temporal bone is used to measure the width of the vestibular aqueduct (VA) in the left and right ears to determine whether other inner ear malformations exist.
Hearing test
Time frame: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Aug 2023.
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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. This study is not recruiting at the moment.
Shiming Yang study chair
Chinese PLA General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hearing Loss and Pendred Syndrome, run by Chinese PLA General Hospital at 1 site 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 3 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 23 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
SLC26A4 sequencing (time frame: through study completion, an average of 0.5 year). The study lists 3 primary outcomes in all. 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 23 Aug 2023.