Prospective Genetic Study in Patients With Ovarian Insufficiency

genetic screening and etiological analysis was conducted on patients with ovarian insufficiency and decline in ovarian reserve. All patients were enrolled in the IVF-treated and non-IVF-treated groups, followed up for long-term treatment outcomes and genomic screening.

Study Overview

• Status: Recruiting
• Conditions: Primary Ovarian Insufficiency; Premature Ovarian Failure; Diminished Ovarian Reserve; Ovarian Dysgenesis
• Intervention / Treatment: Procedure: IVF treatment

Detailed Description

The cause of ovarian insufficiency and decline in ovarian reserve are not clear, but most researchers think the probable causes are mainly three aspects: chromosomal abnormalities, genetic factors and autoimmune diseases，But the majority of patients with normal chromosome karyotype analysis. The screening of pathogenic genes in patients with normal karyotype is the focus of current premature ovarian insufficiency(POI) and decline in ovarian reserve(DOR) etiology, to further explain the pathogenesis of patients, improve the diagnosis of those diseases and Clinical treatment.

• Study Type: Observational
• Enrollment (Anticipated): 300

Contacts and Locations

• Study Contact: Name: Yiran Zhou, bachelor; Phone Number: +86 13605690313; Email: zhouyiran0309@163.com
• Study Contact Backup: Name: Binbin Wang, PhD; Phone Number: +86 13552883407; Email: wbbahu@163.com

Study Locations

• China
  • Anhui
    • Hefei, Anhui, China, 230032
      • Recruiting
      • Reproductive Medicine Center, the First Affiliated Hospital of Anhui Medical University
      • Contact: Yiran Zhou, MD; Phone Number: +8613605690313; Email: zhouyiran0309@163.com
      • Contact: Bingbing Wang, Ph.D; Phone Number: +13552883407; Email: wbbahu@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

Patients who come to the First Affiliated Hospital of Anhui Medical University Reproductive Center and diagnosed as "premature ovarian insufficiency", "diminished ovarian reserve", "primary amenorrhea", " ovarian dysgenesis", " repeated implantation failure"，Understand the content of the project and sign an informed consent form

Description

Inclusion Criteria:

• Patients diagnosed as "premature ovarian insufficiency", "diminished ovarian reserve", "primary amenorrhea", " ovarian dysgenesis", " repeated implantation failure"

Exclusion Criteria:

• To rule out polycystic ovary syndrome（PCOS）, iatrogenic factors (such as surgery, radiotherapy and chemotherapy, etc.) lead to premature ovarian insufficiency in patients

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
IVF treatment group; Patients treated with IVF. IVF promotion process, ovulation, fertilization, embryo quality, transplantation and final outcome were collected after the treatment cycle was completed.	Procedure: IVF treatment; Relationship between IVF treatment outcome and genotypes in POI//DOR/ovarian dysgenesis patients; Other Names: No IVF treatment
No IVF treatment group; the patients who did not have received IVF treatment .Patients were followed up to collect hormone levels, ultrasound results.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genotype	Measure the genotype by genome-wide sequencing of exomes(WES) in subjects.	1/4/2018-24/12/2020

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Dimensions of uterus	Measure the vertical diameter，transverse diameter and anteroposterior diameter of uterus in millimeters	1/4/2018-24/12/2020
Antral follicle count	Measure the basic antral follicle count before controlled ovarian hyperstimulation.	1/4/2018-24/12/2020
Endometrial thickness	Measure endometrial thickness of subjects in millimeters.	1/4/2018-24/12/2020
Live birth rate	Record the live birth rate of offspring in in both groups.	1/4/2018-24/12/2020
Neonatal weight	Record the neonatal weight(in kilogram) of offspring in two groups.	1/4/2018-24/12/2020

Collaborators and Investigators

• Sponsor: The First Affiliated Hospital of Anhui Medical University
• Collaborators: National Research Institute for Family Planning, China
• Investigators: Study Director: Yunxia Cao, PhD, Reproductive Medicine Center, the First Affiliated Hospital of AMU

Study record dates

Study Major Dates

• Study Start (Actual): April 20, 2018
• Primary Completion (Anticipated): January 24, 2023
• Study Completion (Anticipated): December 24, 2023

Study Registration Dates

• First Submitted: February 5, 2018
• First Submitted That Met QC Criteria: March 15, 2018
• First Posted (Actual): March 22, 2018

Study Record Updates

• Last Update Posted (Actual): February 21, 2021
• Last Update Submitted That Met QC Criteria: February 17, 2021
• Last Verified: July 1, 2020

More Information

Terms related to this study

• Keywords: etiology; POI; Genetic causes; DOR
• Additional Relevant MeSH Terms: Endocrine System Diseases; Ovarian Diseases; Adnexal Diseases; Gonadal Disorders; Primary Ovarian Insufficiency; Menopause, Premature
• Other Study ID Numbers: Ovarian-Gene

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No