Clinical Trials Logo
  1. Home
  2. Intellectual Disability
  3. NCT03424772

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

Intellectual Disability Clinical Trial

Official title:
Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Clinical Trial 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

Clinical Trial 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 Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT03424772
Study type Observational [Patient Registry]
Source Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Contact Yu Sun, PhD
Phone +86-25-25076466
Email sunyu@xinhuamed.com.cn
Status Recruiting
Phase N/A
Start date January 18, 2018
Completion date March 2019
View Details
See also
  Status Clinical Trial Phase
Recruiting NCT05935722 - Evaluation of a Home-based Parenting Support Program: Parenting Young Children N/A
Completed NCT04020302 - Self-Monitoring Shopping Intervention N/A
Active, not recruiting NCT03548779 - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 N/A
Completed NCT03722212 - Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test N/A
Not yet recruiting NCT03644797 - Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
Completed NCT03139760 - POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability N/A
Not yet recruiting NCT02881333 - Various Type of Genetic Events in Patients With Intellectual Disability N/A
Completed NCT02746614 - Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability N/A
Completed NCT06097819 - Therapy-Based Games' Effects on Motor and Cognitive Skills in Intellectual Disabilities N/A
Recruiting NCT05767203 - Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin N/A
Terminated NCT05445596 - Improving Treatment for Children With Intellectual and Developmental Disabilities and Problem Behavior in Schools N/A
Recruiting NCT05131425 - Facing Your Fears: Adolescents With ASD and Intellectual Disability N/A
Completed NCT04436692 - Dietary Intervention and Adults With Intellectual Disabilities N/A
Completed NCT04917666 - Process and Outcomes of Horticultural Therapy for People With Disabilities N/A
Completed NCT04518358 - Expert Guiding Technology to Help Individuals With Developmental Challenges Build Life and Vocational Skills N/A
Completed NCT04554355 - Effects of a PA Intervention for Fatness and Fitness in Adolescents With Intellectual Disability N/A
Completed NCT04277130 - Effectiveness of Active Video Games in Children With Intellectual Disabilities N/A
Enrolling by invitation NCT02914951 - Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability N/A
Completed NCT03989388 - Occupational Self-Analysis Programme N/A
Completed NCT02591446 - Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders N/A