OGM combined with RNA-Seq in the detection of pediatric undiagnosed severe intellectual disability and developmental delay (ID/DD) in China

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2200062714

Enrollment

Unknown

Registered

2022-08-16

Start date

2022-08-15

Completion date

Unknown

Last updated

2023-04-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

intellectual disability/developmental delay

Interventions

case group:DNA and RNA detection

Eligibility

Sex/Gender

All

Age

No minimum to 18 Years

Inclusion criteria

Inclusion criteria: 1. Severe mental retardation and developmental delay (ID/DD); (1) IQ test results below 40 (patients 6 years of age were screened using the Old Wechsler Intelligence Scale); (2) Neurodevelopmental deficits may manifest as mental retardation, motor developmental delays, speech delay, and epilepsy. May or may not have multiple congenital anomalies, and families with more than one affected child will be given priority for enrollment. 2. with or without multiple malformations; 3. the family has been tested for WES or WGS and has a negative result; 4. agree to the contents of the informed notification of this study.

Exclusion criteria

Exclusion criteria: 1. Patients with a previous WGS, or WES or CMA test with clear abnormalities. 2. Have hemolysis or other blood disorders, or a history of blood transfusion in the last 3 months; 3. do not wish to participate in this study for any other reason.

Design outcomes

Primary

Measure	Time frame
SNVs and structual variation;	—

Countries

China

Contacts

Public ContactYongguo Yu

Xinhua Hospital, School of Medicine of Shanghai Jiao Tong University

yuyongguo@shsmu.edu.cn+86 13801794114

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026