Ignite Creation Date:
2024-05-06 @ 8:06 PM
Last Modification Date:
2024-10-26 @ 3:20 PM
Study NCT ID:
NCT06258577
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-04-15
First Post:
2024-02-06
Brief Title:
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
Sponsor:
Chung-Hsing Wang
Organization:
China Medical University Hospital
Study Overview
Official Title:
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency From Taiwanese Candidates With Splenomegaly andor Thrombocytopenia
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly andor thrombocytopenia in Taiwan
Detailed Description:
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 2000 candidates from electronic healthcare databases 240 patients from outpatient clinics and a cohort of 6 GD1GD3 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None