Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
NCT ID: NCT06258577
Last Updated: 2024-04-15
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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NOT_YET_RECRUITING
50 participants
OBSERVATIONAL
2024-05-01
2028-12-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
RETROSPECTIVE
Study Groups
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candidates
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.
No interventions assigned to this group
control
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No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Clinical diagnosis of thrombocytopenia
Exclusion Criteria
2. Clinical diagnosis of acid sphingomyelinase
3. Clinical diagnosis of malignant tumors
ALL
No
Sponsors
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Sanofi
INDUSTRY
Chung-Hsing Wang
OTHER
Responsible Party
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Chung-Hsing Wang
Attending Physicians
Principal Investigators
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Chung-Hsing Wang
Role: PRINCIPAL_INVESTIGATOR
China Medical University Hospital
Locations
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China Medical University Hospita
Taichung, , Taiwan
Countries
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Central Contacts
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Facility Contacts
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Chung-Hsing Wang
Role: primary
References
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Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, Tsai FJ. Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis. 2006 May-Jun;36(3):422-5. doi: 10.1016/j.bcmd.2006.02.001. Epub 2006 Mar 20.
Revel-Vilk S, Fuller M, Zimran A. Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review. Int J Mol Sci. 2020 Sep 28;21(19):7159. doi: 10.3390/ijms21197159.
Pinto C, Sousa D, Ghilas V, Dardis A, Scarpa M, Macedo MF. Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective. Int J Mol Sci. 2021 Nov 28;22(23):12870. doi: 10.3390/ijms222312870.
McGovern MM, Avetisyan R, Sanson BJ, Lidove O. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x.
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. Mol Genet Metab. 2020 Sep-Oct;131(1-2):116-123. doi: 10.1016/j.ymgme.2020.06.008. Epub 2020 Jun 24.
Loftus WK, Metreweli C. Normal splenic size in a Chinese population. J Ultrasound Med. 1997 May;16(5):345-7.
Other Identifiers
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CMUH112-REC2-098
Identifier Type: -
Identifier Source: org_study_id
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