NCT05908656
Who may be able to join
Who might be able to join this trial:
- (Phase 1 – Data Review): Anyone whose medical records are held within one of the participating healthcare systems may be included in this first stage.
- (Phase 2 – Identifying Candidates): People who show up as high priority based on a review of their medical records, and who have had at least one interaction with the healthcare system in the past 18 months, may be included in this stage.
- (Phase 3 – Diagnostic Testing): People selected from Phase 2 who have not already been diagnosed with, or definitively cleared of, Gaucher disease (GD) or acid sphingomyelinase deficiency (ASMD) — two rare inherited conditions — may be invited to take part in diagnostic testing, provided they give written consent (or a parent/guardian provides consent where appropriate).
Who may not be able to join:
- (Phase 3 only): People who are unwilling or unable to give their written agreement to take part in the diagnostic testing stage.
- (Phase 3 only): People who are no longer receiving care from one of the participating healthcare systems.
(Note: There are no exclusion criteria for Phases 1 or 2.)
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Trial details
Where this trial is recruiting
Primary endpoints
The proportion of persons with GD (including those with GD identified in Phase II and those previously undiagnosed who subsequently test positive for GD in Phase III) out of all persons highly ranked by the RDA; The proportion of previously undiagnosed persons highly ranked by RDA who subsequently test positive for GD out of persons with GD identified in Phase II and III
Can't join this trial?
Data last synced from ClinicalTrials.gov: 30 June 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.