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)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

13 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-04-02

Study Completion Date

2024-08-26

Brief Summary

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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.

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Detailed Description

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Conditions

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Gaucher Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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Persons with electronic health records suggestive of Gaucher disease

Group Type OTHER

Investigational procedure

Intervention Type PROCEDURE

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

Interventions

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Investigational procedure

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

Intervention Type PROCEDURE

Eligibility Criteria

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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

* 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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No