Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial

NCT ID: NCT02948179

Last Updated: 2021-01-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

459 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-09-02

Study Completion Date

2020-12-31

Brief Summary

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Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease in humans. ADPKD may affect all the generations of the ADPKD family and the probability of ADPKD is 50% in the second generation for each gender. It has been confirmed that PKD1 and PKD2 are two pathogenic genes of ADPKD. Nowadays, the investigators have established an effective gene detection technology platform for PKD1/2 gene with long fragment PCR and next generation sequencing. First, the investigators performed genetic testing in patients with clinically diagnosed ADPKD and strong fertility desire, but afraid of hereditary risk. Using Preimplantation genetic diagnosis, including multiple annealing and looping-based amplification cycles amplification technique, the investigators successfully screened out healthy embryos by In Vitro Fertilization. Then the investigators transplanted embryos returned to the parent. When the baby is born, using umbilical cord blood gene detection, the investigators confirmed that the neonates do not inherit genetic defects form parents. The investigators have succeeded in one couple. The investigators design a multicenter clinical trial to confirm those procedures efficacy and safety.

Detailed Description

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Conditions

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Polycystic Kidney, Type 1 Autosomal Dominant Disease

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

PREVENTION

Blinding Strategy

NONE

Study Groups

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Preimplantation genetic diagnosis group

ADPKD patients will complete the whole process of preimplantation genetic diagnosis with healthy baby without pathogenic gene inheritance.

Group Type EXPERIMENTAL

Preimplantation Genetic Diagnosis

Intervention Type PROCEDURE

Using Preimplantation genetic diagnosis, including multiple annealing and looping-based amplification cycles amplification technique, the investigators have had screened out healthy embryos by In Vitro Fertilization. Then the investigators transplanted embryos returned to the parent. Finally, participants will have healthy baby without pathogenic gene inheritance.

Natural pregnancy group

ADPKD patients, pathogenic mutations in PKD1, have natural pregnancy without preimplantation genetic diagnosis.The investigators will perform genetic tests on the blood or umbilical cord blood of infants born between January 2014 and June 2020.

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

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Preimplantation Genetic Diagnosis

Using Preimplantation genetic diagnosis, including multiple annealing and looping-based amplification cycles amplification technique, the investigators have had screened out healthy embryos by In Vitro Fertilization. Then the investigators transplanted embryos returned to the parent. Finally, participants will have healthy baby without pathogenic gene inheritance.

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* Only one ADPKD patient in one couple without gender limitation
* Wife has age limitation from 20 years to 35 years
* ADPKD ADPKD diagnosis with or without family history
* Find out specific pathogenic mutations in the PKD1 gene with at least one of the following: one of family patients done kidney transplantation or renal replacement therapy before 58 years old; one of family patients died of complications before 55 years old; the patient with total kidney volume more than 650ml; the patient with total kidney volume increase rate more than 6% every year; the patient's PKD1 mutation belongs to truncated gene mutation.
* Both husband and wife have assisted reproductive conditions and will
* Pregnancy compliance with Chinese laws
* Signed informed consent

Exclusion Criteria

* Active pathogenic microorganism infection, such as hepatitis B or C, HIV, pulmonary tuberculosis, giant cell virus, fungi or other contraindications for preimplantation genetic diagnosis and so on
* Any one of the couple has used any drugs which may lead to abnormal reproductive system function, reproductive cell abnormalities, pregnancy risk increases in the past 3 months, or has history of drug abuse
* Any one of the couple has malignancy
* The wife has uncontrolled hypertension or refractory hypertension
* The wife has diabetes mellitus
* The wife has albuminuria
* The wife has autoimmune disease
* The wife has other disorders or functional abnormalities, such as liver or renal dysfunction, which may be aggravated by pregnancy or assisted reproduction
* Allergy to drugs or related products which cannot avoid in our study
* Participating in other clinical studies in last 3 months
* Participants cannot follow the study program
* Other conditions that the researchers considered unsuitable for participation
Minimum Eligible Age

20 Years

Maximum Eligible Age

35 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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The First Affiliated Hospital of Anhui Medical University

OTHER

Sponsor Role collaborator

The First Affiliated Hospital with Nanjing Medical University

OTHER

Sponsor Role collaborator

Shandong Provincial Hospital

OTHER_GOV

Sponsor Role collaborator

Tang-Du Hospital

OTHER

Sponsor Role collaborator

Shengjing Hospital

OTHER

Sponsor Role collaborator

Second Xiangya Hospital of Central South University

OTHER

Sponsor Role collaborator

Reproductive & Genetic Hospital of CITIC-Xiangya

OTHER

Sponsor Role collaborator

Peking University Third Hospital

OTHER

Sponsor Role collaborator

Navy General Hospital, Beijing

OTHER

Sponsor Role collaborator

The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School

OTHER

Sponsor Role collaborator

The First Affiliated Hospital of Soochow University

OTHER

Sponsor Role collaborator

Sir Run Run Shaw Hospital

OTHER

Sponsor Role collaborator

Fuzhou General Hospital

OTHER

Sponsor Role collaborator

The First Affiliated Hospital of Zhengzhou University

OTHER

Sponsor Role collaborator

Wuhan TongJi Hospital

OTHER

Sponsor Role collaborator

Union Hospital, Tongji Medical College, Huazhong University of Science and Technology

OTHER

Sponsor Role collaborator

Renmin Hospital of Wuhan University

OTHER

Sponsor Role collaborator

Xiangya Hospital of Central South University

OTHER

Sponsor Role collaborator

First Affiliated Hospital, Sun Yat-Sen University

OTHER

Sponsor Role collaborator

Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University

OTHER

Sponsor Role collaborator

Southwest Hospital, China

OTHER

Sponsor Role collaborator

LanZhou University

OTHER

Sponsor Role collaborator

Shaanxi Provincial People's Hospital

OTHER

Sponsor Role collaborator

West China Hospital

OTHER

Sponsor Role collaborator

West China Second University Hospital

OTHER

Sponsor Role collaborator

Sichuan Provincial People's Hospital

OTHER

Sponsor Role collaborator

Hebei Medical University Third Hospital

OTHER

Sponsor Role collaborator

Hebei Province Center for Reproductive Medicine

UNKNOWN

Sponsor Role collaborator

The Second Hospital of Hebei Medical University

OTHER

Sponsor Role collaborator

Hospital for Reproductive Medicine Affiliated to Shandong University

UNKNOWN

Sponsor Role collaborator

Changlin Mei

OTHER

Sponsor Role lead

Responsible Party

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Changlin Mei

Professor, Director of kidney Institute

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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changlin Mei, Master

Role: PRINCIPAL_INVESTIGATOR

Institute of Nephrology, Changzheng Hospital

wen Li, doctor

Role: PRINCIPAL_INVESTIGATOR

Center of Reproductive Medicine, Changzheng Hospital

Locations

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The First Affiliated Hospital of Anhui Medical University

Hefei, Anhui, China

Site Status

Navy General Hospital

Beijing, Beijing Municipality, China

Site Status

Peking University Third Hospital

Beijing, Beijing Municipality, China

Site Status

Southwest Hospital

Chongqing, Chongqing Municipality, China

Site Status

Fuzhou General Hospital

Fuzhou, Fujian, China

Site Status

The First Hospital of Lanzhou University

Lanzhou, Gansu, China

Site Status

Sun Yat-sen Memorial Hospital of Sun Yat-sen University

Guangzhou, Guangdong, China

Site Status

The First Affiliated Hospital of Sun Yat-sen University

Guangzhou, Guangdong, China

Site Status

Hebei Province Center for Reproductive Medicine

Shijiazhuang, Hebei, China

Site Status

The Second Hospital of Hebei Medical University

Shijiazhuang, Hebei, China

Site Status

The Third Hospital of Hebei Medical University

Shijiazhuang, Hebei, China

Site Status

The First Affiliated Hospital of Zhengzhou University

Zhengzhou, Henan, China

Site Status

Renmin Hospital of Wuhan University

Wuhan, Hubei, China

Site Status

Wuhan Tongji Hospital

Wuhan, Hubei, China

Site Status

Wuhan Union Hospital

Wuhan, Hubei, China

Site Status

Reproductive & Genetic Hospital of CITIC-Xiangya

Changsha, Hunan, China

Site Status

Second Xiangya Hospital of Central South University

Changsha, Hunan, China

Site Status

Xiangya Hospital of Central South University

Changsha, Hunan, China

Site Status

The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School

Nanjing, Jiangsu, China

Site Status

The First Affiliated Hospital with Nanjing Medical University

Nanjing, Jiangsu, China

Site Status

The First Affiliated Hospital of Soochow University

Suzhou, Jiangsu, China

Site Status

Shengjing Hospital

Shenyang, Liaoning, China

Site Status

Hospital for Reproductive Medicine Affiliated to Shandong University

Jinan, Shandong, China

Site Status

Shandong Provincial Hospital

Jinan, Shandong, China

Site Status

Shanghai Changzheng Hospital

Shanghai, Shanghai Municipality, China

Site Status

Shanxi Provincial People's Hospital

Taiyuan, Shanxi, China

Site Status

Tang-Du Hospital

Xi’an, Shanxi, China

Site Status

Shanxi Provincial People's Hospital

Chengdu, Sichuan, China

Site Status

West China Hospital of Sichuan University

Chengdu, Sichuan, China

Site Status

West China Second University Hospital

Chengdu, Sichuan, China

Site Status

Sir Run Run Shaw Hospital of Zhejiang University

Hangzhou, Zhejiang, China

Site Status

Countries

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China

Other Identifiers

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CZKIPLA-ADPKD-003

Identifier Type: -

Identifier Source: org_study_id

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