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)

Research Study on Diagnostic Testing for Gaucher Disease and ASMD

Recruiting
All
Phase N/A
105 participants needed
3 Locations

Study Overview

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.

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Gaucher Disease
  • Gender: All

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.

Updated on 05 Apr 2024. Study ID: NCT05908656

This study investigates the use of a diagnostic screening tool to identify patients who may have Gaucher disease, a rare genetic disorder. The study involves three phases. In Phase I, a special algorithm will be used to analyze electronic health records (EHR) to find patients with a high likelihood of having Gaucher disease. Gaucher disease is a condition where fatty substances build up in certain organs, especially the spleen and liver, due to a lack of an enzyme. The top 50 patients from each healthcare system will be selected for further review.

In Phase II, the medical records of these selected patients will be reviewed to ensure they meet the criteria for Phase III. Phase III involves contacting eligible patients or their guardians to obtain consent for diagnostic testing. Blood samples will be collected to test for Gaucher disease and acid sphingomyelinase deficiency (ASMD), another condition with similar symptoms. Participants will be informed of their test results.

  • Who can participate: Adults and children identified by the investigational algorithm as likely to have Gaucher disease, who have not been diagnosed with or ruled out for Gaucher disease or ASMD, can participate.
  • Study details: Participants will be contacted for consent to collect blood samples for diagnostic testing of Gaucher disease and ASMD.
  • Study Timelines: The study will last less than 3 months.

Find a study site near you

We have submitted the contact information you provided to the research team at {{SITE_NAME}}. A copy of the message has been sent to your email for your records.
Would you like to be notified about other trials? Sign up for Patient Notification Services.
Sign up

Send a message

Enter your contact details to connect with study team

Investigator Avatar

Primary Contact

First name*
Last name*
Email*
Phone number*
Other language