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Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

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ClinicalTrials.gov Identifier: NCT03424772
Recruitment Status : Recruiting
First Posted : February 7, 2018
Last Update Posted : February 8, 2018
Sponsor:
Information provided by (Responsible Party):
Yongguo Yu, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Brief 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

Condition or disease Intervention/treatment
Intellectual Disability Multiple Congenital Anomaly Rare Diseases Diagnostic Test: Whole genome sequencing

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


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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration: 1 Year
Official Title: Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
Actual Study Start Date : January 18, 2018
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : March 2019

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
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.
Diagnostic Test: Whole genome sequencing
WGS will be performed for the trio




Primary Outcome Measures :
  1. Number of diagnosed families [ Time Frame: 1 year ]
    Families with rare and undiagnosed pediatric genetic disease will be benefitted by WGS.


Secondary Outcome Measures :
  1. Numbers of pathogenic variants in different variation types [ Time Frame: 1 year ]
    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.


Biospecimen Retention:   Samples With DNA
Genomic DNA will be extracted from whole blood


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Undiagnosed Children with intellectual disability/developmental delay and/or multiple congenital abnormalites in China
Criteria

Inclusion Criteria:

  1. 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).
  2. 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
  3. Families went through at least one of the high throughput technology(WES or CMA) and receive the negative result

Exclusion Criteria:

  1. Intellectual disability caused by pregnancy, perinatal infection, ischemia, and hypoxia and other non-hereditary causes,
  2. Obvious genetic metabolic diseases (such as different types of genetic metabolic diseases, bone disease, fragile X syndrome, etc.);

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): NCT03424772


Contacts
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Contact: Yu Sun, PhD +86-25-25076466 sunyu@xinhuamed.com.cn
Contact: Xiaomei Luo, Ms +86-25-25076466 luoxiaomei@xinhuamed.com.cn

Locations
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China, Beijing
Peking Union Medical College Hospital Recruiting
Beijing, Beijing, China, 100005
Contact: Zhengqing Qiu, PhD       zhengqingqiu33@aliyun.com   
Sub-Investigator: Zhengqing Qiu, PhD         
Children's Hospital, Capital Institute of Pediatrics Recruiting
Beijing, Beijing, China, 100020
Contact: Xiaoli Chen, PhD       cxlwx@sina.com   
Sub-Investigator: Xiaoli Chen, PhD         
Department of Pediatrics, Peking University First Hospital Recruiting
Beijing, Beijing, China, 100034
Contact: Yuwu Jiang, PhD       jiangyw@263.net   
Sub-Investigator: Yuwu Jiang, PhD         
China, Guangxi
The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region Recruiting
Nanning, Guangxi, China, 530005
Contact: Yiping Shen, PhD       yiping.shen@childrens.harvard.edu   
Sub-Investigator: Yiping Shen, PhD         
China, Hunan
The Maternal and Child Health Hospital of Hunan Province Recruiting
Changsha, Hunan, China, 410008
Contact: Hua Wang, PhD       wanghua213@aliyun.com   
Sub-Investigator: Hua Wang, PhD         
Xiangya Hospital, Central-south University / Hunan Jiahui genetics hospital Recruiting
Changsha, Hunan, China, 410008
Contact: Lingqian Wu, PhD    0731-84805252    wulingqian@sklmg.edu.cn   
Sub-Investigator: Lingqian Wu, PhD         
Hunan Children's Hospital Recruiting
Changsha, Hunan, China, 410011
Contact: Jing Peng, PhD       pengjing4346@163.com   
Sub-Investigator: Jing Peng, PhD         
China, Jiangsu
Nanjing maternal and children hospital Recruiting
Nanjing, Jiangsu, China, 210004
Contact: Zhengfeng Xu, PhD       njxzf@126.com   
Sub-Investigator: Zhengfeng Xu, PhD         
China, Shanghai
Ruijin Hospital affiliated to Shanghai Jiaotong University Recruiting
Shanghai, Shanghai, China, 200025
Contact: Wei Wang, PhD       jwangwei88@126.com   
Sub-Investigator: Wei Wang, PhD         
Children's Hospital of Shanghai Recruiting
Shanghai, Shanghai, China, 200041
Contact: Pin Li, PhD       lipin21@126.com   
Sub-Investigator: Pin Li, PhD         
Shanghai Institute for Pediatric Research Recruiting
Shanghai, Shanghai, China, 200092
Contact: Xiaomei Luo, MD, PhD    +86-21-25076466    yuyongguo@shsmu.edu.cn   
Principal Investigator: Yongguo Yu, MD, PhD         
Xin Hua Hospital, Shanghai Jiaotong University School of Medicine Recruiting
Shanghai, Shanghai, China, 200092
Contact: Xuefan Gu, MD, PhD       guxuefan@xinhuamed.com.cn   
Sub-Investigator: Xuefan Gu         
Shanghai Children's Medical Center Recruiting
Shanghai, Shanghai, China, 201712
Contact: Fei Li, PhD       lifei5861_cn@163.com   
Sub-Investigator: Fei Li, PhD         
China, Zhejiang
Wenzhou Central Hospital Recruiting
Wenzhou, Zhejiang, China, 325099
Contact: Shaohua Tang, PhD       tsh006@163.com   
Sub-Investigator: Shaohua Tang, PhD         
Sponsors and Collaborators
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Investigators
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Principal Investigator: Yongguo Yu, MD, PhD Specify Unaffiliated

Additional Information:
Publications:
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Responsible Party: Yongguo Yu, Associate chief physician, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
ClinicalTrials.gov Identifier: NCT03424772     History of Changes
Other Study ID Numbers: XH-18-001
First Posted: February 7, 2018    Key Record Dates
Last Update Posted: February 8, 2018
Last Verified: February 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: We have not yet decided which part of individual participant data(IPD) can be shared.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Genetic Diseases, Inborn
Rare Diseases
Disease Attributes
Nervous System Diseases
Neurodevelopmental Disorders
Mental Disorders
Intellectual Disability
Congenital Abnormalities
Abnormalities, Multiple
Pathologic Processes
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms