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Trial record 3 of 5 for:    Recruiting, Not yet recruiting, Available Studies | "Oligospermia"

Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients

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ClinicalTrials.gov Identifier: NCT03497728
Recruitment Status : Recruiting
First Posted : April 13, 2018
Last Update Posted : April 13, 2018
Sponsor:
Collaborators:
Anhui Provincial Hospital
Tang-Du Hospital
The Affiliated Hospital of Inner Mongolia Medical University
Henan Provincial Hospital
The First Affiliated Hospital of Anhui Medical University
First Hospital of Jilin University
Information provided by (Responsible Party):
Reproductive & Genetic Hospital of CITIC-Xiangya

Brief Summary:
In this prospective study, we used Multiplex ligation-dependent probe amplification and next-generation sequencing technology to detect AZF microdeletion types accurately in selected genetic locus, and made correlation analysis with clinical treatment results.

Condition or disease
Azoospermia or Severe Oligozoospermia

Detailed Description:

Infertility has plagued more than 10% of the world's couples of childbearing age, of which male factors account for half. There are many causes of male infertility, including infection, genital malformations, immune dysfunction, varicocele, erectile dysfunction, drug side effect and chromosomal abnormality. Microdeletion of Azoospermia factor (AZF) in the long arm of the Y chromosome is one of the main genetic factors leading to dyszoospermia. The incidence of AZF microdeletions is 2%~19.4% among male infertile patients in Asia, which is related to the inclusion criteria, STS site selection, population and genetic background.

At present, there are large numbers of studies on AZF microdeletions in male infertility, and provide rich information on male infertility. However, as the main means of detection is multiplex PCR-capillary electrophoresis method, which usually detects sequence-tagged sites(STS) such as AZFa-sY84,sY86,AZFb-sY127,sY134,AZFc- sY1191, sY1291, sY1189,sY254 and sY255, information on other loci is still lacking.

In addition, the shortcomings of this method include false positive and false negative results caused by fuzzy electrophoresis strip or pollution and the presence of high repetition and a large number of palindrome in complex AZF region. Because some microdeletions can't be detected it is difficult to make an accurate judgement on the fertility of the patients.

This study will use Multiplex ligation-dependent probe amplification and NGS method to improve the detection rate of AZF microdeletion, and analyze the microdeletion data and the patient's fertility results, so as to improve genetic counseling. A total of 5000 male infertility patients will be enrolled. At least 1000 parents and 1000 normal fertile men will be asked to donate their peripheral blood for DNA.

In addition, in patients with azoospermia or severe oligozoospermia, the overall deletion rate of AZF is about 8.77% (1.75%-24.70%), so there are other unknown genetic factors leading to azoospermia or severe oligozoospermia. This study will also try to make a preliminary study of these factors.


Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Detection of Microdeletions in the Azoospermia Factor (AZF) Regions on the Human Y Chromosome in Infertile Male Patients
Actual Study Start Date : December 4, 2017
Estimated Primary Completion Date : September 1, 2018
Estimated Study Completion Date : December 1, 2018

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Infertility




Primary Outcome Measures :
  1. frequency of mirodeletion [ Time Frame: through study completion, an average of 1 year ]
    The propotion of azoospermia patients with AZF mirodeletion


Biospecimen Retention:   Samples With DNA
Blood is collected in the morning from each patient and then stored at -20℃. Blood specimen is sent to the Lab in Jabrehoo for DNA extraction.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Male patients diagnosed with azoospermia and severe oligozoospermia.
Criteria

Inclusion Criteria:

-Male patients diagnosed with azoospermia and severe oligozoospermia.

Exclusion Criteria:

  1. Klinefelter Syndrome ;
  2. Structural chromosome aberrations;
  3. Obstructive anspermia;
  4. Male infertility caused by endocrine factors;
  5. Do not meet requirements for acquisition, processing and preservation of samples;
  6. After sampling, it doesn't conform to the standard of quality control, or other experimental conditions that don't meet the test requirement;
  7. Unable to obtain patient history;

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03497728


Contacts
Contact: Yueqiu Tan +86-731-82355100 494471277@qq.com

Locations
China, Hunan
Reproductive & Genetic Hospital of CITIC-XIANGYA Recruiting
Changsha, Hunan, China, 410000
Contact: YueQiu Tan    +86-731-82355100    494471277@qq.com   
Sponsors and Collaborators
Reproductive & Genetic Hospital of CITIC-Xiangya
Anhui Provincial Hospital
Tang-Du Hospital
The Affiliated Hospital of Inner Mongolia Medical University
Henan Provincial Hospital
The First Affiliated Hospital of Anhui Medical University
First Hospital of Jilin University
Investigators
Study Chair: Yueqiu Tan Reproductive & Genetic Hospital of CITIC-Xiangya

Responsible Party: Reproductive & Genetic Hospital of CITIC-Xiangya
ClinicalTrials.gov Identifier: NCT03497728     History of Changes
Other Study ID Numbers: KYXM-201802
First Posted: April 13, 2018    Key Record Dates
Last Update Posted: April 13, 2018
Last Verified: February 2018

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Azoospermia
Oligospermia
Sertoli Cell-Only Syndrome
Infertility, Male
Infertility
Genital Diseases, Male