Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
ConditionGaucher Disease
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorChung-Hsing Wang
About this trial
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Clinical diagnosis of splenomegaly
Clinical diagnosis of thrombocytopenia
Disqualifiers
Clinical diagnosis of gaucher disease
Clinical diagnosis of acid sphingomyelinase
Clinical diagnosis of malignant tumors
Trial population
Patient of gaucher disease or acid sphingomyelinase
Trial design
Design model
Case-control
Time perspective
Retrospective
Treatments tested in this trial
Not listed
Trial groups
50 Participants
are grouped into 2 trial groupsGroup A: candidates
Group B: control
Trial outcomes
Primary outcomes
1
Confirmation of Disease
DBS for GBA1 enzyme activity or ASM enzyme activity positive、GBA1 gene sequencing or ASM gene sequencing positive
Time frame
1 monthSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: