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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

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

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.

Detailed Summary:
Sponsor: Changlin Mei

Current Primary Outcome: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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.
  • 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.
  • Oocyte retrieval rate [ Time Frame: through study completion, an average of 2 years ]
    The proportion of good eggs obtained after ovulation induction
  • Good quality embryo rate [ Time Frame: through study completion, an average of 2 years ]
    The well-developed blastocyst ratio obtained after intracytoplasmic sperm injection
  • Pregnancy rate [ Time Frame: Four weeks after embryo transplantation ]
    Successful pregnancy rate of transplanted embryo
  • Take home baby rate [ Time Frame: Two week after neonatus birth day ]
    Healthy newborn birth rate in preimplantation genetic diagnosis group
  • 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.
  • 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.


Original Secondary Outcome: Same as current

Information By: Shanghai Changzheng Hospital

Dates:
Date Received: October 20, 2016
Date Started: September 2016
Date Completion: December 2019
Last Updated: April 24, 2017
Last Verified: April 2017