ClinicalTrials.gov record NCT06258577

Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.The registry record was last updated on Apr 15, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationTaiwan
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational screening study looks for Gaucher disease and acid sphingomyelinase deficiency among people with splenomegaly and/or thrombocytopenia. It uses two phases: electronic health record screening followed by laboratory testing of blood (dry blood spot enzyme activity and plasma lyso‑lipids) and gene sequencing. Results will be compared with a small control group of known Gaucher patients.

What it is studying. Whether a two‑phase approach—record review followed by blood enzyme tests, plasma lyso‑lipid measurements, and gene sequencing—identifies cases of Gaucher disease and ASMD.

What the researchers hope to learn. To evaluate screening methods (DBS enzyme activity, plasma lyso‑lipid levels, and gene sequencing) for detecting Gaucher disease and ASMD in a high‑risk group and to compare test results with confirmed Gaucher patients.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Clinical diagnosis of splenomegaly
  • Clinical diagnosis of thrombocytopenia

Exclusion criteria

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Researchers will first screen medical records to identify candidates. Selected participants will provide blood samples (including dried blood spot samples and plasma) for enzyme activity tests, biomarker measurements (for example Lyso‑GB1 or Lyso‑SM levels), and gene sequencing for GBA1 or ASM genes. Test results will be compared with control samples and used to confirm disease if enzyme activity or gene sequencing is positive. The record does not state the number of clinic visits or other participant services; the primary outcome is measured at 1 month.

How the study is structured. An observational, retrospective case‑control study. Researchers will screen medical records to find candidate patients, perform blood-based laboratory tests and genetic sequencing on selected patients, and compare those results with a small group of known Gaucher patients.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • The listed sites are in Taiwan. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Gaucher disease

This trial is also listed on this site under Niemann-Pick disease type C.

Clinical trials64 trials listed for Gaucher diseaseEvery trial the registry lists for Gaucher disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Gaucher disease researchLatest monthly update: September 2026. Includes: Platelet release. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
May 1, 2024 (estimated)
Primary completion
Dec 31, 2028 (estimated)
Study completion
Dec 31, 2028 (estimated)
Target enrollment
50 participants (estimated)
Last updated on registry
Apr 15, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Chung-Hsing Wang
Collaborators
  • Sanofi

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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