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Clinical Trials in China / NCT06258577
Starting soon Observational

Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

NCT06258577 · tracked via the Priya Life Science China tracker
Sponsor
Chung-Hsing Wang
Phase
Observational
Started
2024-05-01
Last updated
2024-04-15

Condition(s) studied

Gaucher Disease

Study summary

High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria: 1. Clinical diagnosis of splenomegaly 2. Clinical diagnosis of thrombocytopenia Exclusion Criteria: 1. Clinical diagnosis of gaucher disease 2. Clinical diagnosis of acid sphingomyelinase 3. Clinical diagnosis of malignant tumors

Primary outcome measure(s)

  • Confirmation of Disease — 1 month
    DBS for GBA1 enzyme activity or ASM enzyme activity positive、GBA1 gene sequencing or ASM gene sequencing positive

Trial sites (1)

FacilityCityRegionStatus
China Medical University Hospita Taichung Taiwan

Other trials for the same condition

Study of Velaglucerase Beta ERT in Children With Gaucher Disease Starting soon
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry Recruiting
A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease Active, not recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06258577 on ClinicalTrials.gov ↗ ← All trials in China