Gaucher DiseaseNCT06258577
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
An observational study of Gaucher Disease, run by Chung-Hsing Wang at 1 site in Taiwan.
Trial summary
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Gaucher Disease
- How many people
- 50 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 May 2024to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient of gaucher disease or acid sphingomyelinase
Who may be able to join
- Clinical diagnosis of splenomegaly
- Clinical diagnosis of thrombocytopenia
Who cannot join
- Clinical diagnosis of gaucher disease
- Clinical diagnosis of acid sphingomyelinase
- Clinical diagnosis of malignant tumors
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Taiwan1 site
China Medical University Hospita
Taichung
Chung-Hsing Wang, 0422032798 ext. 14641
About this study
Official title: Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency From Taiwanese Candidates With Splenomegaly and/or Thrombocytopenia
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
Read the 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 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.
- Conditions
- Gaucher Disease
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Confirmation of Disease
DBS for GBA1 enzyme activity or ASM enzyme activity positive、GBA1 gene sequencing or ASM gene sequencing positive
Measured: 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Feb 2024
- Study start1 May 2024 (estimated)
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chung-Hsing Wang
- Sponsor type
- University, hospital or other
- Collaborators
- Sanofi
- Responsible party
- Sponsor-investigator, Chung-Hsing Wang, China Medical University Hospital
- Investigators
- Chung-Hsing Wang, Principal investigator, China Medical University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06258577
- Sponsor's protocol ID
- CMUH112-REC2-098
- Status last verified
- Apr 2024
- First submitted
- 6 Feb 2024
- Last updated
- 15 Apr 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 16546416Revel-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.
PubMed 32998334Pinto 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.
PubMed 34884674McGovern 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.
PubMed 28228103Jones 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.
PubMed 32616389Loftus WK, Metreweli C. Normal splenic size in a Chinese population. J Ultrasound Med. 1997 May;16(5):345-7.
PubMed 9315173
Study at a glance
From the registry record, last updated by the sponsor on 15 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency From Taiwanese Candidates With Splenomegaly and/or Thrombocytopenia
- ClinicalTrials.gov ID
- NCT06258577
- Acronym / sponsor ID
- CMUH112-REC2-098
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Chung-Hsing WangUniversity, hospital or other
- Collaborators
- Sanofi
- Study start
- 1 May 2024 (estimated)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 14 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or 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 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.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient of gaucher disease or acid sphingomyelinase
Key inclusion criteria (2 listed)
- Clinical diagnosis of splenomegaly
- Clinical diagnosis of thrombocytopenia
Key exclusion criteria (3 listed)
- Clinical diagnosis of gaucher disease
- Clinical diagnosis of acid sphingomyelinase
- Clinical diagnosis of malignant tumors
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Confirmation of Disease
Time frame: 1 month
DBS for GBA1 enzyme activity or ASM enzyme activity positive、GBA1 gene sequencing or ASM gene sequencing positive
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Apr 2024.
- Results publication: PubMed 16546416Wan 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.
- Results publication: PubMed 32998334Revel-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.
- Results publication: PubMed 34884674Pinto 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.
- Results publication: PubMed 28228103McGovern 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.
- Results publication: PubMed 32616389Jones 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.
- Results publication: PubMed 9315173Loftus WK, Metreweli C. Normal splenic size in a Chinese population. J Ultrasound Med. 1997 May;16(5):345-7.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Chung-Hsing Wang principal investigator
China Medical University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by Chung-Hsing Wang at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 15 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Chung-Hsing Wang (0422032798 ext. 14641, 005894@tool.caaumed.org.tw), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Confirmation of Disease (time frame: 1 month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06258577, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Apr 2024.