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

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

Sponsors

Lead sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Source 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

Overall Status Unknown status
Start Date January 18, 2018
Completion Date March 2019
Primary Completion Date December 2018
Study Type Observational [Patient Registry]
Primary Outcome
Measure Time Frame
Number of diagnosed families 1 year
Secondary Outcome
Measure Time Frame
Numbers of pathogenic variants in different variation types 1 year
Enrollment 100
Condition
Intervention

Intervention type: Diagnostic Test

Intervention name: Whole genome sequencing

Description: WGS will be performed for the trio

Arm group label: Patients with unexplained DD/ID

Eligibility

Sampling method: Non-Probability Sample

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.);

Gender: All

Minimum age: N/A

Maximum age: 18 Years

Healthy volunteers: No

Overall Official
Last Name Role Affiliation
Yongguo Yu, MD, PhD Principal Investigator Specify Unaffiliated
Overall Contact

Last name: Yu Sun, PhD

Phone: +86-25-25076466

Email: [email protected]

Location
facility status contact investigator
Peking Union Medical College Hospital | Beijing, Beijing, 100005, China Recruiting Zhengqing Qiu, PhD [email protected] Zhengqing Qiu, PhD Sub-Investigator
Children's Hospital, Capital Institute of Pediatrics | Beijing, Beijing, 100020, China Recruiting Xiaoli Chen, PhD [email protected] Xiaoli Chen, PhD Sub-Investigator
Department of Pediatrics, Peking University First Hospital | Beijing, Beijing, 100034, China Recruiting Yuwu Jiang, PhD [email protected] Yuwu Jiang, PhD Sub-Investigator
The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region | Nanning, Guangxi, 530005, China Recruiting Yiping Shen, PhD [email protected] Yiping Shen, PhD Sub-Investigator
The Maternal and Child Health Hospital of Hunan Province | Changsha, Hunan, 410008, China Recruiting Hua Wang, PhD [email protected] Hua Wang, PhD Sub-Investigator
Xiangya Hospital, Central-south University / Hunan Jiahui genetics hospital | Changsha, Hunan, 410008, China Recruiting Lingqian Wu, PhD 0731-84805252 [email protected] Lingqian Wu, PhD Sub-Investigator
Hunan Children's Hospital | Changsha, Hunan, 410011, China Recruiting Jing Peng, PhD [email protected] Jing Peng, PhD Sub-Investigator
Nanjing maternal and children hospital | Nanjing, Jiangsu, 210004, China Recruiting Zhengfeng Xu, PhD [email protected] Zhengfeng Xu, PhD Sub-Investigator
Ruijin Hospital affiliated to Shanghai Jiaotong University | Shanghai, Shanghai, 200025, China Recruiting Wei Wang, PhD [email protected] Wei Wang, PhD Sub-Investigator
Children's Hospital of Shanghai | Shanghai, Shanghai, 200041, China Recruiting Pin Li, PhD [email protected] Pin Li, PhD Sub-Investigator
Shanghai Institute for Pediatric Research | Shanghai, Shanghai, 200092, China Recruiting Xiaomei Luo, MD, PhD +86-21-25076466 [email protected] Yongguo Yu, MD, PhD Principal Investigator
Xin Hua Hospital, Shanghai Jiaotong University School of Medicine | Shanghai, Shanghai, 200092, China Recruiting Xuefan Gu, MD, PhD [email protected] Xuefan Gu Sub-Investigator
Shanghai Children's Medical Center | Shanghai, Shanghai, 201712, China Recruiting Fei Li, PhD [email protected] Fei Li, PhD Sub-Investigator
Wenzhou Central Hospital | Wenzhou, Zhejiang, 325099, China Recruiting Shaohua Tang, PhD [email protected] Shaohua Tang, PhD Sub-Investigator
Location Countries

China

Verification Date

February 2018

Responsible Party

Responsible party type: Principal Investigator

Investigator affiliation: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Investigator full name: Yongguo Yu

Investigator title: Associate chief physician

Has Expanded Access No
Condition Browse
Arm Group

Arm group label: Patients with unexplained DD/ID

Description: 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.

Patient Data Undecided
Study Design Info

Observational model: Family-Based

Time perspective: Prospective

Source: ClinicalTrials.gov