Child Development and Genetic Biomarkers(II): Gene Verification and Data Integration

Chang Gung Medical Foundation

Status: Enrolling

Conditions: Developmental Disabilities

Study type: Observational

Funder types: Other

Identifiers

NCT06532721

GENE-CGMH 2023 (DD)

Details and patient eligibility

About

The aims of the study include (1) identifying genes associated with child development and developmental delay in Taiwan (2) comparing the differences and similarities between genetic biomarkers of development and developmental delay for children in Taiwan and children from other countries (3) employing precision medicine as the method for genetic screening or test and (4) tracking children's biological, psychological and social adjustment, especially for those who have early-onset developmental delay.

Full description

The aims of the study include (1) identifying genes associated with child development and developmental delay in Taiwan (2) comparing the differences and similarities between genetic biomarkers of development and developmental delay for children in Taiwan and children from other countries (3) employing precision medicine as the method for genetic screening or test and (4) tracking children's biological, psychological and social adjustment, especially for those who have early-onset developmental delay.

The study will be completed in two phases over three years and will enroll a total of 475 0~40-year-old participants. In the first phase, we will recruit 380 participants. Including 50 participants with typical development, 300 participants with developmental delay and 30 parents to whom have children with severe DD. Then, their genetic data will be compared with genetic data of Chang Gung Hospital and the National Center for Genome Medicine, expect to preliminary find genes associated with child language development. At the same time, 20-30 children with severe developmental delay or have family history of developmental delay will be selected as a pilot study, using whole-exome sequencing (WES) to find other genes associated with development. If the gene deficiency was found in the children, we will invite his or her parents to do WES. In the second phase, we will establish a gene panel according to the genes identified in the previous stage and recruit 95 children with developmental delay to test the gene panel prospectively. The long-term goal of this study is to establish a pioneer study for children

Enrollment: 525 estimated patients

Sex: All

Ages: Under 40 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Consent signing
• 0-40 years old
• Typical development or developmental disabilities

Exclusion criteria

• Central Nervous disease
• Neuromuscular disease
• Congenital disease
• Sensory disorder such as blindness or hearing impairment

Trial design

525 participants in 2 patient groups

developmental disabilities group

Description:

this group recruited children with developmental disabilities

typical developmental group

Description:

This regoup recruited children with typical development