Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

Gaucher Disease Clinical Trial

Official title:

Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency From Taiwanese Candidates With Splenomegaly and/or Thrombocytopenia

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06258577
• Other study ID #: CMUH112-REC2-098
• Status: Not yet recruiting
• Start date: May 1, 2024
• Est. completion date: December 31, 2028

Study information

• Verified date: April 2024
• Source: China Medical University Hospital
• Contact: Chung-Hsing Wang
• Phone: 0422032798
• Email: 005894[@]tool.caaumed.org.tw
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 50
• Est. completion date: December 31, 2028
• Est. primary completion date: December 31, 2028
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

1. Clinical diagnosis of splenomegaly

2. Clinical diagnosis of thrombocytopenia

Exclusion Criteria:

1. Clinical diagnosis of gaucher disease

2. Clinical diagnosis of acid sphingomyelinase

3. Clinical diagnosis of malignant tumors

Related Conditions & MeSH terms

• Gaucher Disease
• Niemann-Pick Disease, Type C
• Niemann-Pick Diseases

Locations

Country	Name	City	State
Taiwan	China Medical University Hospita	Taichung

Sponsors (2)

Lead Sponsor	Collaborator
Chung-Hsing Wang	Sanofi

Country where clinical trial is conducted

Taiwan, 

References & Publications (6)

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 M — View Citation

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

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Confirmation of Disease	DBS for GBA1 enzyme activity or ASM enzyme activity positive?GBA1 gene sequencing or ASM gene sequencing positive	1 month