Skip to main content
OpenTrials
Completed

NCT Number: NCT02948179

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

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Polycystic Kidney, Type 1 Autosomal Dominant Disease Abnormalities, Multiple Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Kidney Diseases, Cystic Male Urogenital Diseases Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Urogenital Diseases Urologic Diseases

Age range

20 year–35 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Preimplantation Genetic Diagnosis

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.

Primary outcomes

  1. Healthy baby Rate without pathogenic gene inheritance

    Time frame: through study completion, an average of 2 year

    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.

Secondary outcomes

  1. Success rate in pretest of preimplantation genetic diagnosis

    Time frame: through study completion, an average of 2 year

    Using couples blood to do pretest of preimplantation genetic diagnosis in Peripheral blood mononuclear lymphocyte.

  2. Technical failure rate of preimplantation genetic diagnosis.

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

    The rate of amniotic fluid puncture test or umbilical cord blood gene detection confirm the offspring containing pathogenic gene mutation.

  3. Oocyte retrieval rate

    Time frame: through study completion, an average of 2 years

    The proportion of good eggs obtained after ovulation induction

  4. Good quality embryo rate

    Time frame: through study completion, an average of 2 years

    The well-developed blastocyst ratio obtained after intracytoplasmic sperm injection

  5. Pregnancy rate

    Time frame: Four weeks after embryo transplantation

    Successful pregnancy rate of transplanted embryo

  6. Take home baby rate

    Time frame: Two week after neonatus birth day

    Healthy newborn birth rate in preimplantation genetic diagnosis group

  7. The total kidney volume change rate

    Time frame: From enroll to postpartum 6 months

    The investigators do twice kidney MRI scan for calculating total kidney volume change rate between enroll and postpartum 6 months.

  8. The estimated glomerular filtration rate change

    Time frame: From enroll to postpartum 6 months

    The investigators do twice serum creatinine test between enroll and postpartum 6 months, then using CKD-EPI formula to calculate eGFR.

Other outcomes

  1. The incidence of ovarian hyperstimulation syndrome

    Time frame: through study completion, an average of 2 years

    the incidence of ovarian hyperstimulation syndrome

  2. The incidence of organ injuries

    Time frame: through study completion, an average of 2 years

    the incidence of organ injuries

  3. The incidence of infection

    Time frame: through study completion, an average of 2 years

    the incidence of infection

  4. The incidence of abortion rate

    Time frame: through study completion, an average of 2 years

    the incidence of abortion rate

Sponsors and collaborators

Lead sponsor

Changlin Mei

Other

Collaborators

  • First Affiliated Hospital, Sun Yat-Sen University
  • Fuzhou General Hospital
  • Hebei Medical University Third Hospital
  • Hebei Province Center for Reproductive Medicine
  • LanZhou University
  • Navy General Hospital, Beijing
  • Peking University Third Hospital
  • Renmin Hospital of Wuhan University
  • Reproductive & Genetic Hospital of CITIC-Xiangya
  • Second Xiangya Hospital of Central South University
  • Shaanxi Provincial People's Hospital
  • Shandong Provincial Hospital
  • Shandong University
  • Shengjing Hospital
  • Sichuan Provincial People's Hospital
  • Sir Run Run Shaw Hospital
  • Southwest Hospital, China
  • Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
  • Tang-Du Hospital
  • The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
  • The First Affiliated Hospital of Anhui Medical University
  • The First Affiliated Hospital of Soochow University
  • The First Affiliated Hospital of Zhengzhou University
  • The First Affiliated Hospital with Nanjing Medical University
  • The Second Hospital of Hebei Medical University
  • Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
  • West China Hospital
  • West China Second University Hospital
  • Wuhan TongJi Hospital
  • Xiangya Hospital of Central South University

Registry information

Official study title

Efficacy and Safety of Preimplantation Genetic Diagnosis in Blocking Pathogenic Gene Inheritance for Autosomal Dominant Polycystic Kidney Disease: a Multicenter Clinical Trial

Acronym: ESPERANCE

Important dates

Study start
2016
Primary completion
2020
Study completion
2020
First posted
Oct 28, 2016
Registry last updated
Jan 26, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.