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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT03424772
Other study ID # XH-18-001
Secondary ID
Status Recruiting
Phase N/A
First received January 30, 2018
Last updated February 6, 2018
Start date January 18, 2018
Est. completion date March 2019

Study information

Verified date February 2018
Source Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Contact Yu Sun, PhD
Phone +86-25-25076466
Email sunyu@xinhuamed.com.cn
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

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


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


Recruitment information / eligibility

Status Recruiting
Enrollment 100
Est. completion date March 2019
Est. primary completion date December 2018
Accepts healthy volunteers No
Gender All
Age group N/A to 18 Years
Eligibility 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.);

Study Design


Intervention

Diagnostic Test:
Whole genome sequencing
WGS will be performed for the trio

Locations

Country Name City State
China Children's Hospital, Capital Institute of Pediatrics Beijing Beijing
China Department of Pediatrics, Peking University First Hospital Beijing Beijing
China Peking Union Medical College Hospital Beijing Beijing
China Hunan Children's Hospital Changsha Hunan
China The Maternal and Child Health Hospital of Hunan Province Changsha Hunan
China Xiangya Hospital, Central-south University / Hunan Jiahui genetics hospital Changsha Hunan
China Nanjing maternal and children hospital Nanjing Jiangsu
China The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi
China Children's Hospital of Shanghai Shanghai Shanghai
China Ruijin Hospital affiliated to Shanghai Jiaotong University Shanghai Shanghai
China Shanghai Children's Medical Center Shanghai Shanghai
China Shanghai Institute for Pediatric Research Shanghai Shanghai
China Xin Hua Hospital, Shanghai Jiaotong University School of Medicine Shanghai Shanghai
China Wenzhou Central Hospital Wenzhou Zhejiang

Sponsors (1)

Lead Sponsor Collaborator
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Country where clinical trial is conducted

China, 

References & Publications (1)

Park ST, Kim J. Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing. Int Neurourol J. 2016 Nov;20(Suppl 2):S76-83. Epub 2016 Nov 22. Review. — View Citation

Outcome

Type Measure Description Time frame Safety issue
Primary Number of diagnosed families Families with rare and undiagnosed pediatric genetic disease will be benefitted by WGS. 1 year
Secondary 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. 1 year
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