search
Back to results

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)

Primary Purpose

Gaucher Disease

Status
Not yet recruiting
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
Investigational procedure
Sponsored by
Sanofi
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Gaucher Disease

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

    Arms of the Study

    Arm 1

    Arm Type

    Other

    Arm Label

    Persons with electronic health records suggestive of Gaucher disease

    Arm Description

    Outcomes

    Primary Outcome Measures

    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

    Secondary Outcome Measures

    Characteristics include demographic information, alternative and concomitant diagnoses, treatments, and patterns of provider visits for the previously listed subgroups
    Relationship between RDA scores and the diagnostic yield; descriptive analyses including confusion matrices

    Full Information

    First Posted
    June 8, 2023
    Last Updated
    June 8, 2023
    Sponsor
    Sanofi
    search

    1. Study Identification

    Unique Protocol Identification Number
    NCT05908656
    Brief 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 (Project Searchlight)
    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
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    June 8, 2023
    Overall Recruitment Status
    Not yet recruiting
    Study Start Date
    August 31, 2023 (Anticipated)
    Primary Completion Date
    May 31, 2024 (Anticipated)
    Study Completion Date
    May 31, 2024 (Anticipated)

    3. Sponsor/Collaborators

    Responsible Party, by Official Title
    Sponsor
    Name of the Sponsor
    Sanofi

    4. Oversight

    Studies a U.S. FDA-regulated Drug Product
    No
    Studies a U.S. FDA-regulated Device Product
    No
    Data Monitoring Committee
    No

    5. Study Description

    Brief 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.

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Gaucher Disease

    7. Study Design

    Primary Purpose
    Screening
    Study Phase
    Not Applicable
    Interventional Study Model
    Single Group Assignment
    Masking
    None (Open Label)
    Allocation
    N/A
    Enrollment
    105 (Anticipated)

    8. Arms, Groups, and Interventions

    Arm Title
    Persons with electronic health records suggestive of Gaucher disease
    Arm Type
    Other
    Intervention Type
    Procedure
    Intervention Name(s)
    Investigational procedure
    Intervention Description
    Subjects that consent will have a single blood draw either via a finger stick or via venous blood draw (blood will be placed on a 5 spot blood card) used to determine whether they have Gaucher Disease or ASMD
    Primary Outcome Measure Information:
    Title
    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
    Time Frame
    Up to 3 months
    Title
    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
    Time Frame
    Up to 3 months
    Secondary Outcome Measure Information:
    Title
    Characteristics include demographic information, alternative and concomitant diagnoses, treatments, and patterns of provider visits for the previously listed subgroups
    Time Frame
    Up to 3 months
    Title
    Relationship between RDA scores and the diagnostic yield; descriptive analyses including confusion matrices
    Time Frame
    Up to 3 months

    10. Eligibility

    Sex
    All
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    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.
    Central Contact Person:
    First Name & Middle Initial & Last Name or Official Title & Degree
    Trial Transparency email recommended (Toll free for US & Canada)
    Email
    Contact-US@sanofi.com
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Clinical Sciences & Operations
    Organizational Affiliation
    Sanofi
    Official's Role
    Study Director

    12. IPD Sharing Statement

    Plan to Share IPD
    Yes
    IPD Sharing Plan Description
    Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org

    Learn more about this trial

    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)

    We'll reach out to this number within 24 hrs