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Trial record 37 of 123 for:    polycystic kidney disease

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2017 by Shanghai Changzheng Hospital
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
Information provided by (Responsible Party):
Changlin Mei, Shanghai Changzheng Hospital
ClinicalTrials.gov Identifier:
NCT02948179
First received: October 20, 2016
Last updated: April 24, 2017
Last verified: April 2017
  Purpose
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 Intervention
Polycystic Kidney, Type 1 Autosomal Dominant Disease
Procedure: Preimplantation Genetic Diagnosis

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: No masking
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

Resource links provided by NLM:


Further study details as provided by Shanghai Changzheng Hospital:

Primary Outcome Measures:
  • 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:
  • 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.


Other Outcome Measures:
  • The incidence of ovarian hyperstimulation syndrome [ Time Frame: through study completion, an average of 2 years ]
    the incidence of ovarian hyperstimulation syndrome

  • The incidence of organ injuries [ Time Frame: through study completion, an average of 2 years ]
    the incidence of organ injuries

  • The incidence of infection [ Time Frame: through study completion, an average of 2 years ]
    the incidence of infection

  • The incidence of abortion rate [ Time Frame: through study completion, an average of 2 years ]
    the incidence of abortion rate


Estimated Enrollment: 100
Study Start Date: September 2016
Estimated Study Completion Date: December 2019
Estimated Primary Completion Date: September 2018 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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.

  Eligibility

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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02948179

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

Locations
China, Anhui
The First Affiliated Hospital of Anhui Medical University Recruiting
Hefei, Anhui, China, 230000
Contact: dawei Chen    +8615056057296      
Principal Investigator: yunxia Cao, doctor         
Sub-Investigator: yonggui Wu, doctor         
China, Hunan
Reproductive & Genetic Hospital of CITIC-Xiangya Recruiting
Changsha, Hunan, China, 410000
Contact: juan Du    +8618684675296      
Sub-Investigator: ge Lin, Doctor         
Second Xiangya Hospital of Central South University Recruiting
Changsha, Hunan, China, 410000
Contact: xun zhou    +8613755026744      
Sub-Investigator: hong Liu, doctor         
China, Jiangsu
The First Affiliated Hospital with Nanjing Medical University Recruiting
Nanjing, Jiangsu, China, 210000
Contact: jiandong Shen, doctor       jiandongsh@163.com   
Sub-Investigator: changying Xing, doctor         
Sub-Investigator: jiandong Shen, doctor         
China, Liaoning
Shengjing Hospital Recruiting
Shenyang, Liaoning, China, 110000
Contact: jiao Jiao    +8618940252509    13889284796@163.com   
Sub-Investigator: detian Li         
Sub-Investigator: xiuxia Wang, doctor         
China, Shandong
Shandong Provincial Hospital Recruiting
Ji'nan, Shandong, China, 250000
Contact: fajuan Chen    +8613187057355    chengfajuan2009@163.com   
Sub-Investigator: rong Wang, doctor         
Sub-Investigator: junhao Yan, doctor         
China, Shanghai
Shanghai Changzheng Hospital Recruiting
Shanghai, Shanghai, China, 200000
Contact: yiyi Ma, doctor    +8613661679863    dukemm@126.com   
Contact: dongping Chen, doctor    +8613764362569    13764362569@163.com   
Sub-Investigator: shengqiang Yu, doctor         
Sub-Investigator: ningxia Sun, doctor         
China, Shanxi
Tang-Du Hospital Recruiting
Xi'an, Shanxi, China, 710000
Contact: zhanting Li    +8613572503218      
Contact: jie Zhang    +8618681853253      
Sub-Investigator: jifeng Sun, Master         
Sub-Investigator: xiaohong Wang, Doctor         
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
Investigators
Principal Investigator: changlin Mei, Master Institute of Nephrology, Changzheng Hospital
Principal Investigator: wen Li, doctor Center of Reproductive Medicine, Changzheng Hospital
  More Information

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
Study First Received: October 20, 2016
Last Updated: April 24, 2017
Individual Participant Data  
Plan to Share IPD: No

Additional relevant MeSH terms:
Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Urologic Diseases
Kidney Diseases, Cystic

ClinicalTrials.gov processed this record on April 28, 2017