Intellectual DisabilityNCT03424772
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
An observational study of Intellectual Disability and Multiple Congenital Anomaly, run by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine at 14 sites in China.
Trial summary
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- What is being tested?
- Whole genome sequencing
- How many people
- 100 participants
- Where
- 14 sitesChina
- Study dates
- 18 Jan 2018to Mar 2019
- How long will I take part?
- 1 Year
- Phase
- Observational
- 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 Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Undiagnosed Children with intellectual disability/developmental delay and/or multiple congenital abnormalites in China
Who may be able to join
- Intelligence tests results of less than 40 (patients <3 years old using the Gesell Developmental Scale for screening; patients of 3-6 years old using Little Wechsler Intelligence Scale for screening; patients >6 years old using Old Wechsler Intelligence Scale for screening).
- Neurodevelopmental defects can be expressed as mental retardation, motor development retardation, language delay, epilepsy, etc. May have or not have Multiple congenital abnormalities, families with more than one affected patient will be enrolled priority
- Families went through at least one of the high throughput technology(WES or CMA) and receive the negative result
Who cannot join
- Intellectual disability caused by pregnancy, perinatal infection, ischemia, and hypoxia and other non-hereditary causes,
- Obvious genetic metabolic diseases (such as different types of genetic metabolic diseases, bone disease, fragile X syndrome, etc.);
Trial locations and contacts
14 sites in 1 country.
14 sites in 1 country
China14 sites, 14 recruiting
- Recruiting
Peking Union Medical College Hospital
Beijing, Beijing Municipality, 100005
Zhengqing Qiu, PhD, zhengqingqiu33@aliyun.com
Zhengqing Qiu, PhD
- Recruiting
Children's Hospital, Capital Institute of Pediatrics
Beijing, Beijing Municipality, 100020
Xiaoli Chen, PhD, cxlwx@sina.com
Xiaoli Chen, PhD
- Recruiting
Department of Pediatrics, Peking University First Hospital
Beijing, Beijing Municipality, 100034
Yuwu Jiang, PhD, jiangyw@263.net
Yuwu Jiang, PhD
- Recruiting
The Maternal and Child Health Hospital of Hunan Province
Changsha, Hunan, 410008
Hua Wang, PhD, wanghua213@aliyun.com
Hua Wang, PhD
- Recruiting
Xiangya Hospital, Central-south University / Hunan Jiahui genetics hospital
Changsha, Hunan, 410008
Lingqian Wu, PhD, 0731-84805252, wulingqian@sklmg.edu.cn
Lingqian Wu, PhD
- Recruiting
Hunan Children's Hospital
Changsha, Hunan, 410011
Jing Peng, PhD, pengjing4346@163.com
Jing Peng, PhD
- Recruiting
Nanjing maternal and children hospital
Nanjing, Jiangsu, 210004
Zhengfeng Xu, PhD, njxzf@126.com
Zhengfeng Xu, PhD
- Recruiting
The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region
Nanning, Guangxi, 530005
Yiping Shen, PhD, yiping.shen@childrens.harvard.edu
Yiping Shen, PhD
- Recruiting
Ruijin Hospital affiliated to Shanghai Jiaotong University
Shanghai, Shanghai Municipality, 200025
Wei Wang, PhD, jwangwei88@126.com
Wei Wang, PhD
- Recruiting
Children's Hospital of Shanghai
Shanghai, Shanghai Municipality, 200041
Pin Li, PhD, lipin21@126.com
Pin Li, PhD
- Recruiting
Shanghai Institute for Pediatric Research
Shanghai, Shanghai Municipality, 200092
Xiaomei Luo, MD, PhD, +86-21-25076466, yuyongguo@shsmu.edu.cn
Yongguo Yu, MD, PhD
- Recruiting
Xin Hua Hospital, Shanghai Jiaotong University School of Medicine
Shanghai, Shanghai Municipality, 200092
Xuefan Gu, MD, PhD, guxuefan@xinhuamed.com.cn
Xuefan Gu
- Recruiting
Shanghai Children's Medical Center
Shanghai, Shanghai Municipality, 201712
Fei Li, PhD, lifei5861_cn@163.com
Fei Li, PhD
- Recruiting
Wenzhou Central Hospital
Wenzhou, Zhejiang, 325099
Shaohua Tang, PhD, tsh006@163.com
Shaohua Tang, PhD
About this study
Official title: Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases
Read the detailed description
This project will recruit 100 rare, undiagnosed pediatric genetic disease families (core families: patients, patients' parents, immediate family members such as brothers and sisters, all of them can be enrolled whether they have disease or not, so generally 3, for a few cases 4 or 5) all over the country. The expert team will review the clinical materials, the molecular team will review the experimental process, and the bioinformatics team will review the chip, the analysis of whole exome sequencing data and screen the samples all over the country;
Whole-genome sequencing of 100 rare, undiagnosed pediatric genetic disease families (Illumina NovaSeq High-throughput Sequencer);
The study will provide preliminarily performance data on the comparison of whole exome data and whole genome data. In addition, it will generate the Chinese Consensus on Clinical Applications of Whole-genome sequencing in the Diagnosis of Birth Defects and Undiagnosed Rare Genetic Diseases in Children based on the statistical analysis of clinical phenotype and genotype association, which could guide the clinical application of pediatrics, laboratory testing and reporting.
Construction of the Chinese detection genome database of genetic disease
- Being tested
- Whole genome sequencing
- Medical subject headings
- Intellectual Disability, Abnormalities, Multiple, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole genome sequencingDiagnostic test
WGS will be performed for the trio
| Study group | Role | What they receive |
|---|---|---|
| Patients with unexplained DD/ID | Whole genome sequencing will be performed on pediatric patients with unexplained developmental delay(DD)/intellectual disability(ID), multiple congenital abnormalities and other rare and undiagnosed diseases. Receives: Diagnostic Test: Whole genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of diagnosed families
Families with rare and undiagnosed pediatric genetic disease will be benefitted by WGS.
Measured: 1 year
Secondary outcomes (1)
Numbers of pathogenic variants in different variation types
WGS would have the potential to detect different types of genetic alterations, such as structure variations, point mutation, small insertion/deletion, trinucleotide repeat, etc. Some types could not be identified by exome sequencing and chromosomal microarray. The numbers of the pathogenic variants in these types will be calculated to examine the benefit of WGS.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Feb 2018
- Study start18 Jan 2018
- Primary completionDec 2018 (estimated)
- Study completionMar 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Intellectual DisabilityStudies of the same condition, open and under way.
- More trials run by Xinhua Hospital, Shanghai Jiao Tong University School of MedicineThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Yongguo Yu, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
- Investigators
- Yongguo Yu, MD, PhD, Principal investigator, Specify Unaffiliated
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03424772
- Sponsor's protocol ID
- XH-18-001
- Status last verified
- Feb 2018
- First submitted
- 30 Jan 2018
- Last updated
- 8 Feb 2018
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We have not yet decided which part of individual participant data(IPD) can be shared.
Publications
Park ST, Kim J. Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing. Int Neurourol J. 2016 Nov;20(Suppl 2):S76-83. doi: 10.5213/inj.1632742.371. Epub 2016 Nov 22.
PubMed 27915479
Study at a glance
From the registry record, last updated by the sponsor on 8 Feb 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
- ClinicalTrials.gov ID
- NCT03424772
- Acronym / sponsor ID
- XH-18-001
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of MedicineUniversity, hospital or other
- Study start
- 18 Jan 2018 (actual)
- Primary completion
- Dec 2018 (estimated)
- Study completion
- Mar 2019 (estimated)
- First posted
- 7 Feb 2018 (actual)
- 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.
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases
Detailed description
This project will recruit 100 rare, undiagnosed pediatric genetic disease families (core families: patients, patients' parents, immediate family members such as brothers and sisters, all of them can be enrolled whether they have disease or not, so generally 3, for a few cases 4 or 5) all over the country. The expert team will review the clinical materials, the molecular team will review the experimental process, and the bioinformatics team will review the chip, the analysis of whole exome sequencing data and screen the samples all over the country;
Whole-genome sequencing of 100 rare, undiagnosed pediatric genetic disease families (Illumina NovaSeq High-throughput Sequencer);
The study will provide preliminarily performance data on the comparison of whole exome data and whole genome data. In addition, it will generate the Chinese Consensus on Clinical Applications of Whole-genome sequencing in the Diagnosis of Birth Defects and Undiagnosed Rare Genetic Diseases in Children based on the statistical analysis of clinical phenotype and genotype association, which could guide the clinical application of pediatrics, laboratory testing and reporting.
Construction of the Chinese detection genome database of genetic disease
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Target follow-up
- 1 Year
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with unexplained DD/ID | – | Diagnostic Test: Whole genome sequencingWhole genome sequencing will be performed on pediatric patients with unexplained developmental delay(DD)/intellectual disability(ID), multiple congenital abnormalities and other rare and undiagnosed diseases. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Undiagnosed Children with intellectual disability/developmental delay and/or multiple congenital abnormalites in China
Key inclusion criteria (3 listed)
- Intelligence tests results of less than 40 (patients <3 years old using the Gesell Developmental Scale for screening; patients of 3-6 years old using Little Wechsler Intelligence Scale for screening; patients >6 years old using Old Wechsler Intelligence Scale for screening).
- Neurodevelopmental defects can be expressed as mental retardation, motor development retardation, language delay, epilepsy, etc. May have or not have Multiple congenital abnormalities, families with more than one affected patient will be enrolled priority
- Families went through at least one of the high throughput technology(WES or CMA) and receive the negative result
Key exclusion criteria (2 listed)
- Intellectual disability caused by pregnancy, perinatal infection, ischemia, and hypoxia and other non-hereditary causes,
- Obvious genetic metabolic diseases (such as different types of genetic metabolic diseases, bone disease, fragile X syndrome, etc.);
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 |
|---|---|---|
| Whole genome sequencingWGS will be performed for the trio | Diagnostic test | Patients with unexplained DD/ID |
Primary outcome
Number of diagnosed families
Time frame: 1 year
Families with rare and undiagnosed pediatric genetic disease will be benefitted by WGS.
1 secondary outcome
Numbers of pathogenic variants in different variation types
Time frame: 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Feb 2018.
- Background: PubMed 27915479Park ST, Kim J. Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing. Int Neurourol J. 2016 Nov;20(Suppl 2):S76-83. doi: 10.5213/inj.1632742.371. Epub 2016 Nov 22.
- Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing.Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided. We have not yet decided which part of individual participant data(IPD) can be shared.
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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.
Yongguo Yu, MD, PhD principal investigator
Specify Unaffiliated
14 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Intellectual Disability and Multiple Congenital Anomaly, run by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine at 14 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 3 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 8 Feb 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Yu Sun, PhD (+86-25-25076466, sunyu@xinhuamed.com.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of diagnosed families (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03424772, which also lists 1 linked publication.
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 8 Feb 2018.