Clinical trial NCT06532721: Child Development and Genetic Biomarkers(II): Gene Verification and Data Integration
Official title: Child Development and Genetic Biomarkers(II): Gene Verification and Data Integration
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Developmental Disabilities
Lead sponsor: Chang Gung Memorial Hospital
Sponsor class: OTHER
First posted: 2024-08-01
Enrollment: 525
Sex: ALL
Maximum age (years): 40
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 475 participants with developmental disabilities and 50 healthy participants

Brief summary: 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.

Detailed 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

Eligibility criteria: 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

Primary outcomes:
measure: Wechsler Preschool and Primary Scale of Intelligence
timeFrame: initial assessment
measure: Test of Nonverbal Intelligence-Fourth Edition
timeFrame: initial assessment
measure: Cantab
timeFrame: initial assessment
measure: Peabody Picture Vocabulary Test-Revised
timeFrame: initial assessment
measure: Clancy Behavior Scale
timeFrame: initial assessment
measure: Swanson, Nolan, and Pelham, version IV
timeFrame: initial assessment
measure: The Berry-Buktenica Developmental Test of Visual-Motor Integration
timeFrame: initial assessment
measure: Comprehensive Developmental Inventory for Infants and Toddlers
timeFrame: initial assessment
measure: Functional Independence Measure for Children
timeFrame: initial assessment
measure: Assessment of Preschool Children's Participation
timeFrame: initial assessment
measure: Children Assessment of Participation and Enjoyment and Preferences for Activity of Children
timeFrame: initial assessment
measure: PedsQL TM
timeFrame: initial assessment
Secondary outcomes:
Other outcomes:
Locations:
city: Taoyuan
country: Taiwan
facility: Chang Gung Memorial Hospital
Study officials:
affiliation: Chang Gung University
name: ChiaLing Chen
role: PRINCIPAL_INVESTIGATOR
References: