Polycystic Kidney, Type 1 Autosomal Dominant DiseaseESPERANCENCT02948179
Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial
A study testing Preimplantation Genetic Diagnosis in people with Polycystic Kidney, Type 1 Autosomal Dominant Disease, run by Changlin Mei at 31 sites in China.
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. Read more about this study
- Who is it for?
- Ages 20 to 35 years
- Conditions the study is for
- Polycystic Kidney, Type 1 Autosomal Dominant Disease
- What is being tested?
- Preimplantation Genetic Diagnosis
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 459 participants
- Where
- 31 sitesChina
- Study dates
- 2 Sep 2016to 31 Dec 2020
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 35 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- 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
Who cannot join
- 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
Show all 12Show fewer
- 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
Trial locations and contacts
31 sites in 1 country.
31 sites in 1 country
China31 sites
Navy General Hospital
Beijing, Beijing Municipality, 100000
Peking University Third Hospital
Beijing, Beijing Municipality, 100000
Reproductive & Genetic Hospital of CITIC-Xiangya
Changsha, Hunan, 410000
Second Xiangya Hospital of Central South University
Changsha, Hunan, 410000
Xiangya Hospital of Central South University
Changsha, Hunan, 410000
Shanxi Provincial People's Hospital
Chengdu, Sichuan, 610000
West China Hospital of Sichuan University
Chengdu, Sichuan, 610000
West China Second University Hospital
Chengdu, Sichuan, 610000
Southwest Hospital
Chongqing, Chongqing Municipality, 400000
Fuzhou General Hospital
Fuzhou, Fujian, 350000
Sun Yat-sen Memorial Hospital of Sun Yat-sen University
Guangzhou, Guangdong, 510000
The First Affiliated Hospital of Sun Yat-sen University
Guangzhou, Guangdong, 510000
Sir Run Run Shaw Hospital of Zhejiang University
Hangzhou, Zhejiang, 310000
The First Affiliated Hospital of Anhui Medical University
Hefei, Anhui, 230000
Hospital for Reproductive Medicine Affiliated to Shandong University
Jinan, Shandong, 250000
Shandong Provincial Hospital
Jinan, Shandong, 250000
The First Hospital of Lanzhou University
Lanzhou, Gansu, 730000
The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
Nanjing, Jiangsu, 210000
The First Affiliated Hospital with Nanjing Medical University
Nanjing, Jiangsu, 210000
Shanghai Changzheng Hospital
Shanghai, Shanghai Municipality, 200000
Shengjing Hospital
Shenyang, Liaoning, 110000
Hebei Province Center for Reproductive Medicine
Shijiazhuang, Hebei, 050000
The Second Hospital of Hebei Medical University
Shijiazhuang, Hebei, 050000
The Third Hospital of Hebei Medical University
Shijiazhuang, Hebei, 050000
The First Affiliated Hospital of Soochow University
Suzhou, Jiangsu, 215000
Shanxi Provincial People's Hospital
Taiyuan, Shanxi, 030000
Renmin Hospital of Wuhan University
Wuhan, Hubei, 430000
Wuhan Tongji Hospital
Wuhan, Hubei, 430000
Wuhan Union Hospital
Wuhan, Hubei, 430000
Tang-Du Hospital
Xi’an, Shanxi, 710000
The First Affiliated Hospital of Zhengzhou University
Zhengzhou, Henan, 450000
About this study
Official title: Efficacy and Safety of Preimplantation Genetic Diagnosis in Blocking Pathogenic Gene Inheritance for Autosomal Dominant Polycystic Kidney Disease: 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.
- Being tested
- Preimplantation Genetic Diagnosis
- Medical subject headings
- Polycystic Kidney, Autosomal Dominant
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Preimplantation Genetic DiagnosisProcedure or surgery
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.
| Study group | Role | What they receive |
|---|---|---|
| Preimplantation genetic diagnosis group | Experimental | ADPKD patients will complete the whole process of preimplantation genetic diagnosis with healthy baby without pathogenic gene inheritance. Receives: Procedure: Preimplantation Genetic Diagnosis |
| Natural pregnancy group | No intervention | ADPKD patients, pathogenic mutations in PKD1, have natural pregnancy without preimplantation genetic diagnosis.The investigators will perform genetic tests on the blood or umbilical cord blood of infants born between January 2014 and June 2020. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Healthy baby Rate without pathogenic gene inheritance
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.
Measured: through study completion, an average of 2 year
Secondary outcomes (8)
Success rate in pretest of preimplantation genetic diagnosis
Using couples blood to do pretest of preimplantation genetic diagnosis in Peripheral blood mononuclear lymphocyte.
Measured: through study completion, an average of 2 year
Technical failure rate of preimplantation genetic diagnosis.
The rate of amniotic fluid puncture test or umbilical cord blood gene detection confirm the offspring containing pathogenic gene mutation.
Measured: Amniotic fluid puncture test (pregnancy 16 to 19 weeks ) and Birth day
Oocyte retrieval rate
The proportion of good eggs obtained after ovulation induction
Measured: through study completion, an average of 2 years
Good quality embryo rate
The well-developed blastocyst ratio obtained after intracytoplasmic sperm injection
Measured: through study completion, an average of 2 years
Pregnancy rate
Successful pregnancy rate of transplanted embryo
Measured: Four weeks after embryo transplantation
Take home baby rate
Healthy newborn birth rate in preimplantation genetic diagnosis group
Measured: Two week after neonatus birth day
The total kidney volume change rate
The investigators do twice kidney MRI scan for calculating total kidney volume change rate between enroll and postpartum 6 months.
Measured: From enroll to postpartum 6 months
The estimated glomerular filtration rate change
The investigators do twice serum creatinine test between enroll and postpartum 6 months, then using CKD-EPI formula to calculate eGFR.
Measured: From enroll to postpartum 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Oct 2016 (estimated)
- Study start2 Sep 2016
- Primary completion30 Nov 2020
- Study completion31 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Polycystic Kidney, Type 1 Autosomal Dominant DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 459 participants (actual)
Sponsor and investigators
- Lead sponsor
- Changlin Mei
- Sponsor type
- University, hospital or other
- 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, Beijing, 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, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 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, Shandong University
- Responsible party
- Sponsor-investigator, Changlin Mei, Shanghai Changzheng Hospital
- Investigators
- changlin Mei, Master, Principal investigator, Institute of Nephrology, Changzheng Hospitalwen Li, doctor, Principal investigator, Center of Reproductive Medicine, Changzheng Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02948179
- Sponsor's protocol ID
- CZKIPLA-ADPKD-003
- Acronym
- ESPERANCE
- Status last verified
- Jan 2021
- First submitted
- 20 Oct 2016
- Last updated
- 26 Jan 2021
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Jan 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Efficacy and Safety of Preimplantation Genetic Diagnosis in Blocking Pathogenic Gene Inheritance for Autosomal Dominant Polycystic Kidney Disease: a Multicenter Clinical Trial
- ClinicalTrials.gov ID
- NCT02948179
- Acronym / sponsor ID
- ESPERANCE / CZKIPLA-ADPKD-003
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 459 participants (actual)
- Lead sponsor
- Changlin MeiUniversity, hospital or other
- 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, Beijing, 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, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 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, Shandong University
- Study start
- 2 Sep 2016 (actual)
- Primary completion
- 30 Nov 2020 (actual)
- Study completion
- 31 Dec 2020 (actual)
- First posted
- 28 Oct 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Preimplantation genetic diagnosis group | Experimental | Procedure: Preimplantation Genetic DiagnosisADPKD patients will complete the whole process of preimplantation genetic diagnosis with healthy baby without pathogenic gene inheritance. |
| Natural pregnancy group | No intervention | –ADPKD patients, pathogenic mutations in PKD1, have natural pregnancy without preimplantation genetic diagnosis.The investigators will perform genetic tests on the blood or umbilical cord blood of infants born between January 2014 and June 2020. |
Who may qualify
- Ages
- 20 to 35 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (12 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Preimplantation Genetic DiagnosisUsing 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. | Procedure or surgery | Preimplantation genetic diagnosis group |
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.
8 secondary outcomes
Success rate in pretest of preimplantation genetic diagnosis
Time frame: through study completion, an average of 2 year
Technical failure rate of preimplantation genetic diagnosis.
Time frame: Amniotic fluid puncture test (pregnancy 16 to 19 weeks ) and Birth day
Oocyte retrieval rate
Time frame: through study completion, an average of 2 years
Good quality embryo rate
Time frame: through study completion, an average of 2 years
Pregnancy rate
Time frame: Four weeks after embryo transplantation
Take home baby rate
Time frame: Two week after neonatus birth day
The total kidney volume change rate
Time frame: From enroll to postpartum 6 months
The estimated glomerular filtration rate change
Time frame: From enroll to postpartum 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jan 2021.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
changlin Mei, Master principal investigator
Institute of Nephrology, Changzheng Hospital
wen Li, doctor principal investigator
Center of Reproductive Medicine, Changzheng Hospital
31 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Preimplantation Genetic Diagnosis in people with Polycystic Kidney, Type 1 Autosomal Dominant Disease, run by Changlin Mei at 31 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Jan 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 31 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Healthy baby Rate without pathogenic gene inheritance (time frame: through study completion, an average of 2 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Jan 2021.