Whole-genome Sequencing Study in Patients With Diminished Ovarian Reserve

Diminished Ovarian Reserve Clinical Trial

Official title:

A Whole-genome Sequencing Base Study on Genetic Pathogenesis of Diminished Ovarian Reserve

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04711772
• Other study ID #: NFEC-2020-188
• Status: Recruiting
• Start date: September 1, 2020
• Est. completion date: December 31, 2022

Study information

• Verified date: May 2020
• Source: Nanfang Hospital of Southern Medical University
• Contact: Shi-ling Chen, M.D, Ph.D
• Phone: +86-020-62787604
• Email: chensl_92[@]163.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 140
• Est. completion date: December 31, 2022
• Est. primary completion date: June 30, 2022
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years to 40 Years

Eligibility

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.

Related Conditions & MeSH terms

• Diminished Ovarian Reserve

Intervention

Other:
• whole-genome sequencing
Whole-genome sequencing will be preformed for each participate to explore the potential disease-causing genes of DOR.

Locations

Country	Name	City	State
China	Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University	Guangzhou	Guangdong

Sponsors (2)

Lead Sponsor	Collaborator
Nanfang Hospital of Southern Medical University	Ferring Pharmaceuticals

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genotype	Measure the genotype by whole-genome sequencing in all participates.	1/9/2020-31/12/2022