ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 46 of 108 for:    "polycystic kidney disease"

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02948179
Recruitment Status : Recruiting
First Posted : October 28, 2016
Last Update Posted : June 28, 2018
Sponsor:
Collaborators:
The First Affiliated Hospital of Anhui Medical University
The First Affiliated Hospital with Nanjing Medical University
Shandong Provincial Hospital
Tang-Du Hospital
Shengjing Hospital
Second Xiangya Hospital of Central South University
Reproductive & Genetic Hospital of CITIC-Xiangya
Peking University Third Hospital
Navy General Hospital
The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
The First Affiliated Hospital of Soochow University
Sir Run Run Shaw Hospital
Fuzhou General Hospital
The First Affiliated Hospital of Zhengzhou University
Wuhan TongJi Hospital
Wuhan Union Hospital, China
Renmin Hospital of Wuhan University
Xiangya Hospital of Central South University
First Affiliated Hospital, Sun Yat-Sen University
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
Southwest Hospital, China
LanZhou University
Shaanxi Provincial People's Hospital
West China Hospital
West China Second University Hospital
Sichuan Provincial People's Hospital
Hebei Medical University Third Hospital
Hebei Province Center for Reproductive Medicine
The Second Hospital of Hebei Medical University
Hospital for Reproductive Medicine Affiliated to Shandong University
Information provided by (Responsible Party):
Changlin Mei, Shanghai Changzheng Hospital

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.

Condition or disease Intervention/treatment Phase
Polycystic Kidney, Type 1 Autosomal Dominant Disease Procedure: Preimplantation Genetic Diagnosis Not Applicable

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
Official Title: Efficacy and Safety of Preimplantation Genetic Diagnosis in Blocking Pathogenic Gene Inheritance for Autosomal Dominant Polycystic Kidney Disease: a Multicenter Clinical Trial
Actual Study Start Date : September 2, 2016
Estimated Primary Completion Date : September 30, 2020
Estimated Study Completion Date : December 31, 2020

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Experimental: Preimplantation genetic diagnosis group
ADPKD patients will complete the whole process of preimplantation genetic diagnosis with healthy baby without pathogenic gene inheritance.
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.

No Intervention: Natural pregnancy group
ADPKD patients, pathogenic mutations in PKD1, have natural pregnancy without preimplantation genetic diagnosis. The investigators will do umbilical cord blood gene detection for the baby.



Primary Outcome Measures :
  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 Outcome Measures :
  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 Outcome Measures:
  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



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   20 Years to 35 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02948179


Contacts
Contact: Yiyi Ma, doctor +8613661679863 dukemm@126.com
Contact: Bo Yang, doctor +8613585694444 sternothyroid@live.com

  Show 31 Study Locations
Sponsors and Collaborators
Changlin Mei
The First Affiliated Hospital of Anhui Medical University
The First Affiliated Hospital with Nanjing Medical University
Shandong Provincial Hospital
Tang-Du Hospital
Shengjing Hospital
Second Xiangya Hospital of Central South University
Reproductive & Genetic Hospital of CITIC-Xiangya
Peking University Third Hospital
Navy General Hospital
The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
The First Affiliated Hospital of Soochow University
Sir Run Run Shaw Hospital
Fuzhou General Hospital
The First Affiliated Hospital of Zhengzhou University
Wuhan TongJi Hospital
Wuhan Union Hospital, China
Renmin Hospital of Wuhan University
Xiangya Hospital of Central South University
First Affiliated Hospital, Sun Yat-Sen University
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
Southwest Hospital, China
LanZhou University
Shaanxi Provincial People's Hospital
West China Hospital
West China Second University Hospital
Sichuan Provincial People's Hospital
Hebei Medical University Third Hospital
Hebei Province Center for Reproductive Medicine
The Second Hospital of Hebei Medical University
Hospital for Reproductive Medicine Affiliated to Shandong University
Investigators
Principal Investigator: changlin Mei, Master Institute of Nephrology, Changzheng Hospital
Principal Investigator: wen Li, doctor Center of Reproductive Medicine, Changzheng Hospital

Responsible Party: Changlin Mei, Professor, Director of kidney Institute, Shanghai Changzheng Hospital
ClinicalTrials.gov Identifier: NCT02948179     History of Changes
Other Study ID Numbers: CZKIPLA-ADPKD-003
First Posted: October 28, 2016    Key Record Dates
Last Update Posted: June 28, 2018
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Urologic Diseases
Kidney Diseases, Cystic
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn