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

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.

Conditions

• Polycystic Kidney, Type 1 Autosomal Dominant Disease

Interventions

PROCEDURE

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.

Sponsors & Collaborators

• The First Affiliated Hospital of Anhui Medical University

  collaborator OTHER

• The First Affiliated Hospital with Nanjing Medical University

  collaborator OTHER

• Shandong Provincial Hospital

  collaborator OTHER_GOV

• Tang-Du Hospital

  collaborator OTHER

• Shengjing Hospital

  collaborator OTHER

• Second Xiangya Hospital of Central South University

  collaborator OTHER

• Reproductive & Genetic Hospital of CITIC-Xiangya

  collaborator OTHER

• Peking University Third Hospital

  collaborator OTHER

• Navy General Hospital, Beijing

  collaborator OTHER

• The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School

  collaborator OTHER

• The First Affiliated Hospital of Soochow University

  collaborator OTHER

• Sir Run Run Shaw Hospital

  collaborator OTHER

• Fuzhou General Hospital

  collaborator OTHER

• The First Affiliated Hospital of Zhengzhou University

  collaborator OTHER

• Wuhan TongJi Hospital

  collaborator OTHER

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

  collaborator OTHER

• Renmin Hospital of Wuhan University

  collaborator OTHER

• Xiangya Hospital of Central South University

  collaborator OTHER

• First Affiliated Hospital, Sun Yat-Sen University

  collaborator OTHER

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

  collaborator OTHER

• Southwest Hospital, China

  collaborator OTHER

• LanZhou University

  collaborator OTHER

• Shaanxi Provincial People's Hospital

  collaborator OTHER

• West China Hospital

  collaborator OTHER

• West China Second University Hospital

  collaborator OTHER

• Sichuan Provincial People's Hospital

  collaborator OTHER

• Hebei Medical University Third Hospital

  collaborator OTHER

• Hebei Province Center for Reproductive Medicine

  collaborator UNKNOWN

• The Second Hospital of Hebei Medical University

  collaborator OTHER

• Hospital for Reproductive Medicine Affiliated to Shandong University

  collaborator UNKNOWN

• Changlin Mei

  lead OTHER

Principal Investigators

• changlin Mei, Master · Institute of Nephrology, Changzheng Hospital

• wen Li, doctor · Center of Reproductive Medicine, Changzheng Hospital

Study Design

Allocation

NON_RANDOMIZED

Purpose

PREVENTION

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

20 Years

Max Age

35 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2016-09-02

Primary Completion

2020-11-30

Completion

2020-12-31

Countries

• China

Study Locations