Genetic DiseaseNCT05631509
Genetic Study of Obstructive Azoospermia
An observational study of Genetic Disease, run by Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University at 1 site in China.
Trial summary
In 1% of men with infertility, obstructive azoospermia (OA) may occur in congenital absence of the vas (CAVD) or idiopathic obstructive azoospermia . Many studies have shown that the pathogenic genes of OA are CFTR and ADGRG2 genes, and the inheritance mode is autosomal recessive. Read more about this study
- Who is it for?
- Ages 18 to 50 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Genetic Disease
- How many people
- 300 participants
- Where
- 1 siteChina
- Study dates
- 1 Jul 2021to 31 Dec 2025
- 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 18 to 50 years
- Men only
- Healthy volunteers accepted
- Adult
Study population: This is a non-interventional multicenter study. The cases were mainly male outpatients from the Reproductive Center of our Hospital, Shenzhen Hospital of the University of Hong Kong and Shenzhen Hospital of Traditional Chinese Medicine. A total of 300 cases were planned to be enrolled. Through inclusion criteria and exclusion criteria, appropriate patients were selected for genetic testing, including sequence of known pathogenic genes (CFTR and ADGRG2) and whole- exome sequence. If patients were found to carry mutations in CFTR, ADGRG2 or other genes, verification of family members' blood samples was required to determine the pathogenicity of mutations.
Who may be able to join
- No sperm was found after centrifugation for 15min for two or more semen tests, and the interval between two tests was at least 2 weeks.
- Blood FSH is normal;
- Hematostatin b is normal;
- Chromosome karyotype is normal or polymorphic;
- Y chromosome microdeletion did not show the deletion:(main locus);
- Biochemical fructose of seminal plasma : less than the normal value;
- PH of semen <7.2;
- Transscrotal or transrectal ultrasound: normal testicular size(as measured by B ultrasound), presence or dysplasia of vas deferens and epididymis;
Who cannot join
- B ultrasound of urinary system suggested abnormal development;
- Transscrotal or Transrectal ultrasound indicated absence of vas deferens or epididymis or seminal vesicle;
- Physical examination showed the following abnormalities: cryptorchidism, tenderness of testis and epididymis;
- The following medical history: genitourinary tract trauma or surgical history; orchitis; epididymitis; Seminal vesicle disease; mumps;
- Laboratory examination: red and white blood cell elevation of semen routine
Trial locations and contacts
1 site in 1 country.
Liushan Ou contact
China1 site, 1 recruiting
- Recruiting
107 Yan Jiang Xi Road
Guangzhou, Guangdong, 510080
Lingyan Zheng, 86-20-81332230, lyzheng6@163.com
About this study
In 1% of men with infertility, obstructive azoospermia (OA) may occur in congenital absence of the vas (CAVD) or idiopathic obstructive azoospermia . Many studies have shown that the pathogenic genes of OA are CFTR and ADGRG2 genes, and the inheritance mode is autosomal recessive. Although the conventional assisted reproductive technology(PESA/TESA) can help these patients have children, male patients who carry mutations of the disease-causing genes (CFTR and ADGRG2) will also pass on their mutations to the next generation, which will increase the risk of male offspring infertility. Therefore, genetic detection of CFTR and ADGRG2 genes is very necessary for CAVD patients before assisted reproduction. Genetic diagnosis plays a key role in preventing the disease to the offspring.
- Conditions
- Genetic Disease
- Keywords
- CFTR, ADGRG2, Obstructive azoospermia
- Medical subject headings
- Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
mutation rate
the mutation rate of CFTR and ADGRG2
Measured: through study completion, an average of 3 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Nov 2022
- Study start1 Jul 2021
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- 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
- Cross-sectional
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05631509
- Sponsor's protocol ID
- SYSEC-KY-KS-2021-116
- Status last verified
- May 2024
- First submitted
- 15 Nov 2022
- Last updated
- 8 May 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Study of Obstructive Azoospermia
- ClinicalTrials.gov ID
- NCT05631509
- Acronym / sponsor ID
- SYSEC-KY-KS-2021-116
- Conditions
- Genetic Disease
- Keywords
- CFTR, ADGRG2, Obstructive azoospermia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Sun Yat-Sen Memorial Hospital of Sun Yat-Sen UniversityUniversity, hospital or other
- Study start
- 1 Jul 2021 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 30 Nov 2022 (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.
In 1% of men with infertility, obstructive azoospermia (OA) may occur in congenital absence of the vas (CAVD) or idiopathic obstructive azoospermia . Many studies have shown that the pathogenic genes of OA are CFTR and ADGRG2 genes, and the inheritance mode is autosomal recessive. Although the conventional assisted reproductive technology(PESA/TESA) can help these patients have children, male patients who carry mutations of the disease-causing genes (CFTR and ADGRG2) will also pass on their mutations to the next generation, which will increase the risk of male offspring infertility. Therefore, genetic detection of CFTR and ADGRG2 genes is very necessary for CAVD patients before assisted reproduction. Genetic diagnosis plays a key role in preventing the disease to the offspring.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 to 50 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- This is a non-interventional multicenter study. The cases were mainly male outpatients from the Reproductive Center of our Hospital, Shenzhen Hospital of the University of Hong Kong and Shenzhen Hospital of Traditional Chinese Medicine. A total of 300 cases were planned to be enrolled. Through inclusion criteria and exclusion criteria, appropriate patients were selected for genetic testing, including sequence of known pathogenic genes (CFTR and ADGRG2) and whole- exome sequence. If patients were found to carry mutations in CFTR, ADGRG2 or other genes, verification of family members' blood samples was required to determine the pathogenicity of mutations.
Key inclusion criteria (8 listed)
- No sperm was found after centrifugation for 15min for two or more semen tests, and the interval between two tests was at least 2 weeks.
- Blood FSH is normal;
- Hematostatin b is normal;
- Chromosome karyotype is normal or polymorphic;
- Y chromosome microdeletion did not show the deletion:(main locus);
Key exclusion criteria (5 listed)
- B ultrasound of urinary system suggested abnormal development;
- Transscrotal or Transrectal ultrasound indicated absence of vas deferens or epididymis or seminal vesicle;
- Physical examination showed the following abnormalities: cryptorchidism, tenderness of testis and epididymis;
- The following medical history: genitourinary tract trauma or surgical history; orchitis; epididymitis; Seminal vesicle disease; mumps;
- Laboratory examination: red and white blood cell elevation of semen routine
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
mutation rate
Time frame: through study completion, an average of 3 year
the mutation rate of CFTR and ADGRG2
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2024.
- Individual participant dataSharing planned: No
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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.
Liushan Ou contact
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 Genetic Disease, run by Sun Yat-Sen Memorial Hospital of Sun Yat-Sen 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 8 inclusion and 5 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 8 May 2024. 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 Ping Yuan, PhD (86-20-81332230, kekeyp1983@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
mutation rate (time frame: through study completion, an average of 3 year). 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 8 May 2024.