An observational study in Intellectual Disability, Multiple Congenital Anomaly and Rare Diseases, sponsored by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. Status unknown at 14 sites in China. Open to participants aged Up to 18 Years. Per ClinicalTrials.gov, last updated 2018-02-08.
Sponsored by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine · Observational
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
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
Undiagnosed Children with intellectual disability/developmental delay and/or multiple congenital abnormalites in China
Exclusion Criteria:
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
Number of diagnosed families
Families with rare and undiagnosed pediatric genetic disease will be benefitted by WGS.
Time frame: 1 year
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.
Time frame: 1 year
Plan to share: Undecided — We have not yet decided which part of individual participant data(IPD) can be shared.
This study is status unknown, as verified in Feb 2018. You cannot join it, but the record below documents what was studied.
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Xinhua Hospital, Shanghai Jiao Tong University School of Medicine