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Cross-sectional Validation and DynamicOptimization Study of a Next-Generation Sequencing (NGS) Panel for the Precision Diagnosis of Hereditary Thrombocytopenia

Cross-sectional Validation and DynamicOptimization Study of a Next-Generation Sequencing (NGS) Panel for the Precision Diagnosis of Hereditary Thrombocytopenia

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2500112653
Enrollment
Unknown
Registered
2025-11-18
Start date
2025-12-03
Completion date
Unknown
Last updated
2025-11-24

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

Conditions

Hereditary thrombocytopenia

Interventions

Observation group:None

Sponsors

Second Affiliated Hospital of Army Medical University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1.Platelet count (PLT) is decreased as indicated by at least two complete blood count (CBC) tests, i.e., PLT < 100×10^9/L; 2.The etiology of thrombocytopenia remains unclear; 3.Patients with hematological malignancies who have not yet received chemotherapy or allogeneic stem cell transplantation.

Exclusion criteria

Exclusion criteria: 1.Patients with chemotherapy-induced thrombocytopenia (CTIT) due to malignant tumor treatment; 2.Patients with heparin or heparin-like substance-induced thrombocytopenia that resolves upon drug discontinuation; 3.Patients with liver cirrhosis or liver cancer complicated by thrombocytopenia; 4.Patients with acute trauma showing decreased platelet count confirmed by two consecutive complete blood count (CBC) tests within a short period; 5.Patients with acute or chronic hematological malignancies who have received drug therapy or allogeneic stem cell transplantation; 6.Patients with immune thrombocytopenic purpura (ITP) who respond well to immunosuppressive agents or hormone therapy; 7.Patients who have undergone whole-exome sequencing (WES) at other hospitals and whose thrombocytopenia has been confirmed to be non-hereditary; 8.Individuals currently participating in other clinical trials; 9.Individuals deemed ineligible for this study by the researchers.

Design outcomes

Primary

MeasureTime frame
Deoxyribonucleic acid, DNA;

Countries

China

Contacts

Public ContactChen Li

Second Affiliated Hospital of Army Medical University

chenli200401@tmmu.edu.cn+86 151 7893 6688

Outcome results

None listed

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