Clinical Trials Logo

Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT06258577
Other study ID # CMUH112-REC2-098
Secondary ID
Status Not yet recruiting
Phase
First received
Last updated
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
Health authority
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

Study Design


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
See also
  Status Clinical Trial Phase
Withdrawn NCT04189601 - Complement Activation in the Lysosomal Storage Disorders
Completed NCT02536911 - A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate Phase 1
Completed NCT04430881 - A National Study in Patients With Unexplained Splenomegaly
Completed NCT02536937 - A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate Phase 1
Completed NCT01411228 - A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Phase 3
Terminated NCT04094181 - A Study of VPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapies or Substrate Reduction Therapies
Completed NCT00391625 - Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) Phase 1/Phase 2
Completed NCT03625882 - Survey Study for Velaglucerase Alfa (VPRIV) in Japan
Active, not recruiting NCT05526664 - Omics Gaucher Study: Multiomic Approach
Completed NCT02536755 - Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies Phase 3
Recruiting NCT01344096 - Thrombocytopathy in Gaucher Disease Patients N/A
Completed NCT01881633 - A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers Phase 1
Recruiting NCT06116071 - Biomarkers Related to Bone in Pediatric Gaucher Disease
Recruiting NCT01951989 - Intra-monocyte Imiglucerase Kinetics in Gaucher Disease Phase 2
Completed NCT00258778 - Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD) Phase 1
Recruiting NCT04388969 - World Data on Ambroxol for Patients With GD and GBA Related PD
Recruiting NCT05992532 - GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Terminated NCT04145037 - Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease Phase 1/Phase 2
Completed NCT00302146 - Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Active, not recruiting NCT02605603 - SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease