Prospective Genetic Study in Patients With Ovarian Insufficiency

• Conditions: Primary Ovarian Insufficiency; Diminished Ovarian Reserve; Premature Ovarian Failure; Ovarian Dysgenesis
• Interventions: Procedure: IVF treatment

• Registration Number: NCT03474120
• Lead Sponsor: The First Affiliated Hospital of Anhui Medical University

Brief Summary

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.

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 Timeline

• Study First Submitted: 2018-02-05
• Study First Submitted QC: 2018-03-15
• Study First Posted: 2018-03-22
• Study Start: 2018-04-20
• Status Verified: 2020-07
• Last Update Submitted: 2021-02-17
• Last Update Posted: 2021-02-21
• Primary Completion: 2023-01-24
• Study Completion: 2023-12-24

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Female
• Target Recruitment: 300

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
IVF treatment group	IVF treatment	Patients treated with IVF. IVF promotion process, ovulation, fertilization, embryo quality, transplantation and final outcome were collected after the treatment cycle was completed.

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Reproductive Medicine Center, the First Affiliated Hospital of Anhui Medical University; 🇨🇳 Hefei, Anhui, China