Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

Launched by CHUNG-HSING WANG · Feb 6, 2024

Keywords

ClinConnect Summary

This clinical trial is looking into screening for two rare genetic conditions: Gaucher Disease and Acid Sphingomyelinase Deficiency. It will focus on patients in Taiwan who have specific health issues, particularly an enlarged spleen (called splenomegaly) or low platelet counts (thrombocytopenia). The goal is to identify individuals who might be at high risk for these conditions, which can cause serious health problems if not diagnosed and treated.

To participate in this trial, individuals need to have a clinical diagnosis of either splenomegaly or thrombocytopenia. However, people who have already been diagnosed with Gaucher Disease or Acid Sphingomyelinase Deficiency, as well as those with malignant tumors (cancers), cannot take part. As this trial is not yet recruiting, participants can expect to learn more about their health and potentially receive important information regarding these conditions.

Gender

ALL

Eligibility criteria

• 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