An observational study in Gaucher Disease, sponsored by Chung-Hsing Wang. Not yet recruiting at 1 site in Taiwan. Per ClinicalTrials.gov, last updated 2024-04-15.
Sponsored by Chung-Hsing Wang · Observational
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
Late-onset Gaucher disease (GD) present a unique set of challenges compared to their early-onset counterparts. Symptoms may not appear until adulthood, leading to delayed diagnosis and treatment. This delay can result in irreversible damage to affected tissues and organs, such as the liver, spleen, and central nervous system. Additionally, many late-onset GD are underdiagnosed or misdiagnosed due to their rarity and the variability of symptoms. This study is divided into two phases. In the first phase, patients with hepatosplenomegaly of unknown etiology will be initially screened using an electronic medical record database, and in the second phase, laboratory analysis of biomarkers, including Dry blood spot (DBS) for GBA1 enzyme activity, plasma Lyso-GB1 levels and GBA1 gene sequencing, will be performed. Acid sphingomyelinase deficiency (ASMD) is another lysosomal storage disorder that shares symptoms with GD. Consistent with the above screening strategy for GD patients in two phases (DBS for ASM enzyme activity, plasma Lyso-SM levels and ASM gene sequencing). This study will involve 2,000 candidates from electronic healthcare databases, 240 patients from outpatient clinics, and a cohort of 6 GD1/GD3 patients as controls. In conclusion, initial screening for late-onset GD and ASMD can provide patients with treatment opportunities that can improve outcomes for those affected by these rare diseases.
174 studies on the registry are indexed under Gaucher Disease; 40 are open to participants now.
This study's planned enrollment of 50 is below the median of 60 across 65 observational studies indexed under Gaucher Disease.
Browse Gaucher Disease studies →This is the only study on the registry with Chung-Hsing Wang as lead sponsor.
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Patient of gaucher disease or acid sphingomyelinase
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Exclusion Criteria:
In the first phase, patients with hepatosplenomegaly of unknown etiology will be initially screened using an electronic medical record database, and in the second phase, laboratory analysis of biomarkers, including Dry blood spot (DBS) for GBA1 enzyme activity, plasma Lyso-GB1 levels and GBA1 gene sequencing, will be performed.
Compare the blood test with the candidates group.
Confirmation of Disease
DBS for GBA1 enzyme activity or ASM enzyme activity positive、GBA1 gene sequencing or ASM gene sequencing positive
Time frame: 1 month
Plan to share: No
Start is estimated for May 2024; primary completion for Dec 2028, 55 months later.
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This study is not yet recruiting, as verified in Apr 2024. You cannot join it, but the record below documents what was studied.
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