Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
1 other identifier
observational
100
1 country
14
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
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Jan 2018
14 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 18, 2018
CompletedFirst Submitted
Initial submission to the registry
January 30, 2018
CompletedFirst Posted
Study publicly available on registry
February 7, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2018
CompletedStudy Completion
Last participant's last visit for all outcomes
March 1, 2019
CompletedFebruary 8, 2018
February 1, 2018
11 months
January 30, 2018
February 6, 2018
Conditions
Outcome Measures
Primary Outcomes (1)
Number of diagnosed families
Families with rare and undiagnosed pediatric genetic disease will be benefitted by WGS.
1 year
Secondary Outcomes (1)
Numbers of pathogenic variants in different variation types
1 year
Study Arms (1)
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.
Interventions
WGS will be performed for the trio
Eligibility Criteria
Undiagnosed Children with intellectual disability/developmental delay and/or multiple congenital abnormalites in China
You may qualify if:
- 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
You may not qualify if:
- 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.);
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (14)
Peking Union Medical College Hospital
Beijing, Beijing Municipality, 100005, China
Children's Hospital, Capital Institute of Pediatrics
Beijing, Beijing Municipality, 100020, China
Department of Pediatrics, Peking University First Hospital
Beijing, Beijing Municipality, 100034, China
The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region
Nanning, Guangxi, 530005, China
The Maternal and Child Health Hospital of Hunan Province
Changsha, Hunan, 410008, China
Xiangya Hospital, Central-south University / Hunan Jiahui genetics hospital
Changsha, Hunan, 410008, China
Hunan Children's Hospital
Changsha, Hunan, 410011, China
Nanjing maternal and children hospital
Nanjing, Jiangsu, 210004, China
Ruijin Hospital affiliated to Shanghai Jiaotong University
Shanghai, Shanghai Municipality, 200025, China
Children's Hospital of Shanghai
Shanghai, Shanghai Municipality, 200041, China
Shanghai Institute for Pediatric Research
Shanghai, Shanghai Municipality, 200092, China
Xin Hua Hospital, Shanghai Jiaotong University School of Medicine
Shanghai, Shanghai Municipality, 200092, China
Shanghai Children's Medical Center
Shanghai, Shanghai Municipality, 201712, China
Wenzhou Central Hospital
Wenzhou, Zhejiang, 325099, China
Related Publications (1)
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.
PMID: 27915479BACKGROUND
Related Links
Biospecimen
Genomic DNA will be extracted from whole blood
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Yongguo Yu, MD, PhD
Specify Unaffiliated
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- PROSPECTIVE
- Target Duration
- 1 Year
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Associate chief physician
Study Record Dates
First Submitted
January 30, 2018
First Posted
February 7, 2018
Study Start
January 18, 2018
Primary Completion
December 1, 2018
Study Completion
March 1, 2019
Last Updated
February 8, 2018
Record last verified: 2018-02