Official Title
Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
Brief Title
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
Protocol ID
NCT03424772
Lead Sponsor
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
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 Period
Enrollment Count
100 participants
Eligibility 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.);
Filters
Intellectual Disability
Multiple Congenital Anomaly
Rare Diseases
UNKNOWN
CHILD
ADULT