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 on Gaucher Disease Diagnostic Methods
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
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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.
This study investigates methods for diagnosing Gaucher disease, a rare genetic disorder where fatty substances accumulate in certain organs. The study uses a Rare Disease Algorithm (RDA) to identify individuals who may have Gaucher disease by analyzing electronic health records (EHR) from selected healthcare systems. Gaucher disease symptoms can overlap with those of another condition called acid sphingomyelinase deficiency (ASMD).
The study involves three phases. In Phase I, a diagnostic algorithm screens EHRs to find individuals likely to have Gaucher disease. In Phase II, medical records of these individuals are reviewed to determine eligibility for Phase III. In Phase III, eligible participants will provide consent for blood tests to diagnose Gaucher disease and ASMD. Results will be shared with participants by the study team.
- Who can participate: Participants are individuals identified by the Rare Disease Algorithm as having a high likelihood of Gaucher disease. They must not have a prior diagnosis or a conclusive exclusion of Gaucher disease or ASMD.
- Study details: Participants will undergo diagnostic testing for Gaucher disease and ASMD. A placebo is not used in this study.
- Study timelines: The study will last less than 3 months.
