A prospective genetic eitoloy study for Infantile Spasms by whole-genomic sequencing with whole-transcriptomic sequencing

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2100049098

Enrollment

Unknown

Registered

2021-07-21

Start date

2021-07-21

Completion date

Unknown

Last updated

2022-04-04

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

Conditions

Infantile Spasm Syndrome

Interventions

test group:No

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1.Agree to participate in this study and voluntarily sign the Informed Consent Form; 2.Patient is clinically diagnosed with Infantile Spasms Syndrome; 3.The Whole-exome sequencing (with or without previous experience CMA/CNVseq) are applied and the results are negative; 4.The original sequencing data can be provided; 5.The patients and their parents can provide at least 7 ml peripheral blood samples(remaining blood from routine follow-up examination).

Exclusion criteria

Exclusion criteria: 1.whole-exomic reanalysis result is positive; 2.Contaminated samples; 3.The sample information cannot be identified or traced to the source.

Design outcomes

Primary

Measure	Time frame
serious adverse event;	—

Countries

China

Contacts

Public ContactPeng Jing

Xiangya Hosipital Central South University

pengjing4346@163.com+86 13548966986

Outcome results

None listed

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