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Whole-genome Sequencing Study in Patients With Diminished Ovarian Reserve

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04711772
Recruitment Status : Recruiting
First Posted : January 15, 2021
Last Update Posted : January 15, 2021
Ferring Pharmaceuticals
Information provided by (Responsible Party):
Nanfang Hospital of Southern Medical University

Brief Summary:
The study aims to explore the genetic pathogenesis of diminished ovarian reserve via whole-genome sequencing technology in Chinese women.

Condition or disease Intervention/treatment
Diminished Ovarian Reserve Other: whole-genome sequencing

Detailed Description:
Diminished ovarian reserve (DOR), a pathological condition of reduced quantity and quality of oocytes, has severe impairment on women fertility. Some women experience DOR may develop into premature ovarian insufficiency (POI), which defined as a cessation of function of ovaries in women younger than 40 years old. The pathogenesis of DOR is multiple and the etiology of most DOR remains obscure. Genetic factors, including chromosome abnormality, genetic variation, and non-coding RNA abnormal regulation are considered the major mechanisms of DOR. More than 12 gene mutations, detected by whole-exome sequencing (WES), have been implicated as potential causes of DOR. However, we have found that coding gene mutation detected by WES may only account for a small part of DOR. Whole-genome sequencing (WGS) has been developing into an important strategy for identifying exons, introns and mitochondrial DNA mutation. However, the application of WGS is still lacking in detecting pathogenic genes of DOR. Therefore, this study intends to explore the possible pathogenic genes by WGS in order to deeply and comprehensively understand the pathogenic mechanism of DOR.

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Study Type : Observational
Estimated Enrollment : 140 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Whole-genome Sequencing Base Study on Genetic Pathogenesis of Diminished Ovarian Reserve
Actual Study Start Date : September 1, 2020
Estimated Primary Completion Date : June 30, 2022
Estimated Study Completion Date : December 31, 2022

Group/Cohort Intervention/treatment
DOR group
Genomic DNA will be extracted from peripheral blood leukocytes to perform whole-genome sequencing in participates with diminished ovarian reserve.
Other: whole-genome sequencing
Whole-genome sequencing will be preformed for each participate to explore the potential disease-causing genes of DOR.

Control group
Participants with normal ovarian reserve will be recruited as control group and peripheral blood leukocytes genomic DNA will be extracted to perform whole-genome sequencing.
Other: whole-genome sequencing
Whole-genome sequencing will be preformed for each participate to explore the potential disease-causing genes of DOR.

Primary Outcome Measures :
  1. Genotype [ Time Frame: 1/9/2020-31/12/2022 ]
    Measure the genotype by whole-genome sequencing in all participates.

Biospecimen Retention:   Samples With DNA
Peripheral blood samples(10 ml) will be collected(in EDTA anticoagulant tube) and an informed consent form will be signed for participates diagnosed with DOR and control women.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 40 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
The two groups of this study consist of DOR patients and women with normal ovarian reserve.

Inclusion Criteria:

DOR group:

  1. age between 18 and 40 years;
  2. number of oocytes obtained in previous ovarian stimulation cycles ≤3;
  3. bilateral ovarian antral follicle count (AFC) < 5-7;
  4. serum anti-Mullerian hormone (AMH) <0.5-1.1ng/ml.

Control group:

  1. age between 18 and 40 years;
  2. bilateral AFC ≥8;
  3. serum AMH ≥1.2ng/ml;
  4. regular menstrual cycles occurring every 25-35 days.

Exclusion Criteria:

The exclusion criteria of the two groups were:

  1. an abnormal karyotype;
  2. a history of other endocrine diseases such as polycystic ovary syndrome, hyperprolactinemia and hyperthyroidism;
  3. a history of radiotherapy, chemotherapy and ovarian surgery.

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 identifier (NCT number): NCT04711772

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Contact: Shi-ling Chen, M.D, Ph.D +86-020-62787604

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China, Guangdong
Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University Recruiting
Guangzhou, Guangdong, China, 510515
Contact: Chen Shi-Ling, M.D., Ph.D    +86-20-62787604   
Principal Investigator: Chen Shi-Ling, M.D., Ph.D         
Sponsors and Collaborators
Nanfang Hospital of Southern Medical University
Ferring Pharmaceuticals
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Study Director: Shi-ling Chen, M.D, Ph.D Nanfang Hospital of Southern Medical University
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Responsible Party: Nanfang Hospital of Southern Medical University Identifier: NCT04711772    
Other Study ID Numbers: NFEC-2020-188
First Posted: January 15, 2021    Key Record Dates
Last Update Posted: January 15, 2021
Last Verified: May 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Nanfang Hospital of Southern Medical University:
Diminished Ovarian Reserve
Whole-genome Sequencing