Genetic Study of Obstructive Azoospermia

Genetic Disease Clinical Trial

Official title:

Genetic Study of Obstructive Azoospermia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05631509
• Other study ID #: SYSEC-KY-KS-2021-116
• Status: Recruiting
• Start date: July 1, 2021
• Est. completion date: December 31, 2025

Study information

• Verified date: May 2024
• Source: Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
• Contact: Ping Yuan, PhD
• Phone: 86-20-81332230
• Email: kekeyp1983[@]163.com
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: December 31, 2025
• Est. primary completion date: December 31, 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Male
• Age group: 18 Years to 50 Years

Eligibility

Inclusion Criteria:

• 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;

Exclusion Criteria:

• 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

Related Conditions & MeSH terms

• Azoospermia
• Genetic Disease
• Genetic Diseases, Inborn

Locations

Country	Name	City	State
China	107 Yan Jiang Xi Road	Guangzhou	Guangdong

Sponsors (1)

Lead Sponsor	Collaborator
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	mutation rate	the mutation rate of CFTR and ADGRG2	through study completion, an average of 3 year