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)

NCT05908656 | Completed

• 2 other identifiers: PIR17206U1111-1280-8450
• Study Type: interventional
• Target: 13
• Locations: 1 country
• Sites: 3

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.

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (2)

• 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

  Up to 3 months

• 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

  Up to 3 months

Secondary Outcomes (2)

• Characteristics include demographic information, alternative and concomitant diagnoses, treatments, and patterns of provider visits for the previously listed subgroups

  Up to 3 months

• Relationship between RDA scores and the diagnostic yield; descriptive analyses including confusion matrices

  Up to 3 months

Study Arms (1)

Persons with electronic health records suggestive of Gaucher disease

OTHER

Procedure: Investigational procedure

Interventions

Investigational procedure 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

Persons with electronic health records suggestive of Gaucher disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Sanofi: lead

Study Sites (3)

University of Florida 655 W 8th St- Site Number : 8400003

Gainesville, Florida, 32610-3003, United States

Location

Metropolitan Hospital Center- Site Number : 8400001

New York, New York, 10029-7494, United States

Location

Aurora Research Institute LLC- Site Number : 8400002

Milwaukee, Wisconsin, 53233-1306, United States

Location

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Clinical Sciences & Operations

  Sanofi

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 8, 2023
• First Posted: June 18, 2023
• Study Start: April 2, 2024
• Primary Completion: August 26, 2024
• Study Completion: August 26, 2024
• Last Updated: November 19, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will share

Locations

US (3)