Waardenburg SyndromeNCT02418936
Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
An observational study of Waardenburg Syndrome and Large Vestibular Aqueduct Syndrome, run by Xiangya Hospital of Central South University at 1 site in China.
Trial summary
The purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Waardenburg Syndrome, Large Vestibular Aqueduct Syndrome
- What is being tested?
- gene diagnostic kit
- Type of treatment
- Medical device
- How many people
- 100 participants
- Where
- 1 siteChina
- Study dates
- Jan 2015to Dec 2017
- 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: People who are diagnosised Waardenburg syndrome or large vestibular aqueduct syndrome.
Who may be able to join
- Clinical diagnosis of Waardenburg syndrome
- Clinical diagnosis of large vestibular aqueduct syndrome
Who cannot join
- Could not be able to exsanguinate
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
Xiangya Hospital
Changsha, Hunan, 410008
Yuxiang Cai, MD, +86 13755132428, caiyx_bb@163.com
About this study
Official title: Development and Clinical Application of Two New Genetic Deafness Gene
The purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.
Read the detailed description
- For the pathogenic gene of Waardenburg syndrome and large vestibular aqueduct syndrome, based on the second-generation sequencing technology, the investigators develop multiplex PCR system for these two hereditary deafness gene diagnostic kit.
- Using CNVplex high-throughput gene copy number detection technology to analyse Warrdenburg syndrome pathologic gene. CNVs analysis for Warrdenburg deafness syndrome develop special testing system / kit achieve SNP / CNVs detected simultaneously, as a supplementary means of genetic testing in clinical deafness.
- Being tested
- gene diagnostic kit
- Keywords
- Waardenburg syndrome, Large vestibular aqueduct syndrome, Diagnosis, copy number variation, Multiplex polymerase chain reaction
- Medical subject headings
- Waardenburg Syndrome, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
gene diagnostic kitDevice
| Study group | Role | What they receive |
|---|---|---|
| WS | WS diagositic kit Receives: Device: gene diagnostic kit | |
| LVAS | LVAS diagositic kit Receives: Device: gene diagnostic kit |
What is being measured
The primary outcome is the main question the study is designed to answer.
the positive rate of WS diagnosis
Measured: two years
Secondary outcomes (1)
the positive rate of LVAS diagnosis
Measured: two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Apr 2015 (estimated)
- Study startJan 2015
- Primary completionOct 2017 (estimated)
- Study completionDec 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Waardenburg SyndromeStudies of the same condition, open and under way.
- More trials run by Xiangya Hospital of Central South UniversityThe 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
- Case only
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Xiangya Hospital of Central South University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02418936
- Sponsor's protocol ID
- 2014L01
- Status last verified
- Apr 2015
- First submitted
- 13 Apr 2015
- Last updated
- 17 Apr 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development and Clinical Application of Two New Genetic Deafness Gene
- ClinicalTrials.gov ID
- NCT02418936
- Acronym / sponsor ID
- 2014L01
- Keywords
- Waardenburg syndrome, Large vestibular aqueduct syndrome, Diagnosis, copy number variation, Multiplex polymerase chain reaction
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Xiangya Hospital of Central South UniversityUniversity, hospital or other
- Study start
- Jan 2015
- Primary completion
- Oct 2017 (estimated)
- Study completion
- Dec 2017 (estimated)
- First posted
- 17 Apr 2015 (estimated)
- 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 purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.
Detailed description
- For the pathogenic gene of Waardenburg syndrome and large vestibular aqueduct syndrome, based on the second-generation sequencing technology, the investigators develop multiplex PCR system for these two hereditary deafness gene diagnostic kit.
- Using CNVplex high-throughput gene copy number detection technology to analyse Warrdenburg syndrome pathologic gene. CNVs analysis for Warrdenburg deafness syndrome develop special testing system / kit achieve SNP / CNVs detected simultaneously, as a supplementary means of genetic testing in clinical deafness.
Study design
- Observational model
- Case only
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| WS | – | Device: gene diagnostic kitWS diagositic kit |
| LVAS | – | Device: gene diagnostic kitLVAS diagositic kit |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- People who are diagnosised Waardenburg syndrome or large vestibular aqueduct syndrome.
Key inclusion criteria (2 listed)
- Clinical diagnosis of Waardenburg syndrome
- Clinical diagnosis of large vestibular aqueduct syndrome
Key exclusion criteria (1 listed)
- Could not be able to exsanguinate
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 |
|---|---|---|
| gene diagnostic kit | Device | LVAS, WS |
Primary outcome
the positive rate of WS diagnosis
Time frame: two years
1 secondary outcome
the positive rate of LVAS diagnosis
Time frame: two years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Apr 2015.
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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.
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 Waardenburg Syndrome and Large Vestibular Aqueduct Syndrome, run by Xiangya Hospital of Central South University 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 2 inclusion and 1 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 17 Apr 2015. 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?
Contact Yuxiang Cai, MD (+86 13755132428, caiyx_bb@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
the positive rate of WS diagnosis (time frame: two years). 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 17 Apr 2015.