Status:
UNKNOWN
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
Lead Sponsor:
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Conditions:
Intellectual Disability
Multiple Congenital Anomaly
Eligibility:
All Genders
Up to 18 years
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 abnormaliti...
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 b...
Eligibility Criteria
Inclusion
- 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
Exclusion
- 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.);
Key Trial Info
Start Date :
January 18 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 1 2019
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT03424772
Start Date
January 18 2018
End Date
March 1 2019
Last Update
February 8 2018
Active Locations (14)
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1
Peking Union Medical College Hospital
Beijing, Beijing Municipality, China, 100005
2
Children's Hospital, Capital Institute of Pediatrics
Beijing, Beijing Municipality, China, 100020
3
Department of Pediatrics, Peking University First Hospital
Beijing, Beijing Municipality, China, 100034
4
The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region
Nanning, Guangxi, China, 530005