Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

NCT06258577 | Not Yet Recruiting DMC

• 1 other identifier: CMUH112-REC2-098
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (1)

• Confirmation of Disease

  DBS for GBA1 enzyme activity or ASM enzyme activity positive、GBA1 gene sequencing or ASM gene sequencing positive

  1 month

Study Arms (2)

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.

control

Compare the blood test with the candidates group.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient of gaucher disease or acid sphingomyelinase

You may qualify if:

• Clinical diagnosis of splenomegaly
• Clinical diagnosis of thrombocytopenia

You may not qualify if:

• Clinical diagnosis of gaucher disease
• Clinical diagnosis of acid sphingomyelinase
• Clinical diagnosis of malignant tumors

Sponsors & Collaborators

• Chung-Hsing Wang: lead
• Sanofi: collaborator

Study Sites (1)

China Medical University Hospita

Taichung, Taiwan

Location

Related Publications (6)

• 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.

  PMID: 16546416 RESULT

• 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.

  PMID: 32998334 RESULT

• 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.

  PMID: 34884674 RESULT

• 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.

  PMID: 28228103 RESULT

• 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.

  PMID: 32616389 RESULT

• Loftus WK, Metreweli C. Normal splenic size in a Chinese population. J Ultrasound Med. 1997 May;16(5):345-7.

  PMID: 9315173 RESULT

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Chung-Hsing Wang

  China Medical University Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chung-Hsing Wang

CONTACT

0422032798; 005894@tool.caaumed.org.tw

Kai-Wen liu

CONTACT

0422032798; kevinagirl2@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Attending Physicians

Study Record Dates

• First Submitted: February 6, 2024
• First Posted: February 14, 2024
• Study Start: May 1, 2024
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: April 15, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

TW (1)