Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
Public ClinicalTrials.gov record NCT05908656. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to identify patients who have an increased likelihood of having Gaucher disease. This tool will be applied to a health system's electronic health records (EHR). The top 50 active patients per healthcare system will be identified as "highly ranked by the RDA" and moved to Phase II. As three to four healthcare systems are expected to participate in this study, between 150 to 200 persons are expected to be identified and included in Phase II. Phase II: Retrospective review of medical records of highly ranked persons: The listing of persons highly-ranked by the RDA from phase I will be forwarded to the study team within each participating healthcare system. After reviewing the RDA reports and medical records of each highly ranked person, study site personnel will determine eligibility for Phase III based on the relevant selection criteria listed in the section below. Phase III: Prospective diagnostic testing: Eligible persons (or their parent/guardian) from Phase II will be contacted and asked to provide consent for inclusion into the study. After consent is received, blood samples will be collected and sent for Gaucher diagnostic testing. Because of overlap in clinical symptoms between Gaucher disease and acid sphingomyelinase deficiency (ASMD), patients will also receive diagnostic testing for ASMD. Results will be shared with study site personnel, who will subsequently inform the study subject (and/or their parent/guardian, where appropriate) of results. It is anticipated that participation of a typical subject will be less than 3 months.
Study identification
- NCT ID
- NCT05908656
- Recruitment status
- Completed
- Study type
- Interventional
- Phase
- Not applicable
- Enrollment
- 13 participants
Conditions and interventions
Conditions
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Apr 1, 2024
- Primary completion
- Aug 25, 2024
- Completion
- Aug 25, 2024
- Last update posted
- Nov 18, 2024
2024
United States locations
- U.S. sites
- 3
- U.S. states
- 3
- U.S. cities
- 3
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| University of Florida 655 W 8th St- Site Number : 8400003 | Gainesville | Florida | 32610-3003 | — |
| Metropolitan Hospital Center- Site Number : 8400001 | New York | New York | 10029-7494 | — |
| Aurora Research Institute LLC- Site Number : 8400002 | Milwaukee | Wisconsin | 53233-1306 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT05908656, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Nov 18, 2024 · Synced Sep 18, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT05908656 live on ClinicalTrials.gov.