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Clinical Trials in Taiwan / NCT06258577

Starting soon Observational

Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

NCT06258577 · tracked via the Priya Life Science Taiwan 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)

Facility	City	Region	Status
China Medical University Hospita	Taichung	Taiwan

Other trials for the same condition

International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry 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 Taiwan