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)

  • STATUS
    Recruiting
  • participants needed
    105
  • sponsor
    Sanofi
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Updated on 3 December 2024
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Summary

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.

Details
Condition Gaucher Disease
Treatment Investigational procedure
Clinical Study IdentifierNCT05908656
SponsorSanofi
Last Modified on3 December 2024

Eligibility

 Yes No Not Sure

Inclusion Criteria

Phase I (Model Deployment): All persons within the EHRs of the selected IDNs will be included in this stage
Phase II (Case Ascertainment): The 150 to 200 persons with the highest RDA values (i.e., 50 per healthcare system) who are active (any documented interaction with the healthcare system in the previous 18 months) will be included in this stage
Phase III (Diagnostic Testing): The subset of persons from Phase II who: (1) have not been diagnosed with GD or ASMD, and (2) have not had GD and ASMD conclusively ruled out, will be asked to provide consent to undergo diagnostic testing. Individuals who meet these criteria and who provide written informed consent (or those whose parents/guardians provide consent as appropriate) will be included in this stage

Exclusion Criteria

There are no exclusion criteria for Phase I or Phase II
Phase III (Diagnostic Testing)
Patient is unable/unwilling to provide informed consent for diagnostic testing, or
Patient is no longer under the care of the IDN
The above information is not intended to contain all considerations relevant to a potential
participation in a clinical trial
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How to participate?

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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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