NCT02948179

Brief Summary

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
459

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Sep 2016

Longer than P75 for not_applicable

Geographic Reach
1 country

31 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 2, 2016

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

October 20, 2016

Completed
8 days until next milestone

First Posted

Study publicly available on registry

October 28, 2016

Completed
4.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 30, 2020

Completed
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2020

Completed
Last Updated

January 26, 2021

Status Verified

January 1, 2021

Enrollment Period

4.2 years

First QC Date

October 20, 2016

Last Update Submit

January 25, 2021

Conditions

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Outcome Measures

Primary Outcomes (1)

  • Healthy baby Rate without pathogenic gene inheritance

    The investigators will do umbilical cord blood gene detection for the baby to confirm with or without pathogenic gene inheritance. The investigators will compare two groups of healthy newborns rate.

    through study completion, an average of 2 year

Secondary Outcomes (8)

  • Success rate in pretest of preimplantation genetic diagnosis

    through study completion, an average of 2 year

  • Technical failure rate of preimplantation genetic diagnosis.

    Amniotic fluid puncture test (pregnancy 16 to 19 weeks ) and Birth day

  • Oocyte retrieval rate

    through study completion, an average of 2 years

  • Good quality embryo rate

    through study completion, an average of 2 years

  • Pregnancy rate

    Four weeks after embryo transplantation

  • +3 more secondary outcomes

Other Outcomes (4)

  • The incidence of ovarian hyperstimulation syndrome

    through study completion, an average of 2 years

  • The incidence of organ injuries

    through study completion, an average of 2 years

  • The incidence of infection

    through study completion, an average of 2 years

  • +1 more other outcomes

Study Arms (2)

Preimplantation genetic diagnosis group

EXPERIMENTAL

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

Procedure: Preimplantation Genetic Diagnosis

Natural pregnancy group

NO INTERVENTION

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.

Interventions

Preimplantation Genetic DiagnosisPROCEDURE

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.

Preimplantation genetic diagnosis group

Eligibility Criteria

Age20 Years - 35 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (31)

The First Affiliated Hospital of Anhui Medical University

Hefei, Anhui, 230000, China

Location

Navy General Hospital

Beijing, Beijing Municipality, 100000, China

Location

Peking University Third Hospital

Beijing, Beijing Municipality, 100000, China

Location

Southwest Hospital

Chongqing, Chongqing Municipality, 400000, China

Location

Fuzhou General Hospital

Fuzhou, Fujian, 350000, China

Location

The First Hospital of Lanzhou University

Lanzhou, Gansu, 730000, China

Location

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

Guangzhou, Guangdong, 510000, China

Location

The First Affiliated Hospital of Sun Yat-sen University

Guangzhou, Guangdong, 510000, China

Location

Hebei Province Center for Reproductive Medicine

Shijiazhuang, Hebei, 050000, China

Location

The Second Hospital of Hebei Medical University

Shijiazhuang, Hebei, 050000, China

Location

The Third Hospital of Hebei Medical University

Shijiazhuang, Hebei, 050000, China

Location

The First Affiliated Hospital of Zhengzhou University

Zhengzhou, Henan, 450000, China

Location

Renmin Hospital of Wuhan University

Wuhan, Hubei, 430000, China

Location

Wuhan Tongji Hospital

Wuhan, Hubei, 430000, China

Location

Wuhan Union Hospital

Wuhan, Hubei, 430000, China

Location

Reproductive & Genetic Hospital of CITIC-Xiangya

Changsha, Hunan, 410000, China

Location

Second Xiangya Hospital of Central South University

Changsha, Hunan, 410000, China

Location

Xiangya Hospital of Central South University

Changsha, Hunan, 410000, China

Location

The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School

Nanjing, Jiangsu, 210000, China

Location

The First Affiliated Hospital with Nanjing Medical University

Nanjing, Jiangsu, 210000, China

Location

The First Affiliated Hospital of Soochow University

Suzhou, Jiangsu, 215000, China

Location

Shengjing Hospital

Shenyang, Liaoning, 110000, China

Location

Hospital for Reproductive Medicine Affiliated to Shandong University

Jinan, Shandong, 250000, China

Location

Shandong Provincial Hospital

Jinan, Shandong, 250000, China

Location

Shanghai Changzheng Hospital

Shanghai, Shanghai Municipality, 200000, China

Location

Shanxi Provincial People's Hospital

Taiyuan, Shanxi, 030000, China

Location

Tang-Du Hospital

Xi’an, Shanxi, 710000, China

Location

Shanxi Provincial People's Hospital

Chengdu, Sichuan, 610000, China

Location

West China Hospital of Sichuan University

Chengdu, Sichuan, 610000, China

Location

West China Second University Hospital

Chengdu, Sichuan, 610000, China

Location

Sir Run Run Shaw Hospital of Zhejiang University

Hangzhou, Zhejiang, 310000, China

Location

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant

Condition Hierarchy (Ancestors)

Polycystic Kidney DiseasesKidney Diseases, CysticKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCiliopathiesGenetic Diseases, Inborn

Study Officials

  • changlin Mei, Master

    Institute of Nephrology, Changzheng Hospital

    PRINCIPAL INVESTIGATOR

  • wen Li, doctor

    Center of Reproductive Medicine, Changzheng Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
PREVENTION
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Professor, Director of kidney Institute

Study Record Dates

First Submitted

October 20, 2016

First Posted

October 28, 2016

Study Start

September 2, 2016

Primary Completion

November 30, 2020

Study Completion

December 31, 2020

Last Updated

January 26, 2021

Record last verified: 2021-01

Data Sharing

IPD Sharing
Will not share

Locations

CN(31)