Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE (HOPE Fabry)

Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE

Primary objective:

To estimate the prevalence of patients who are at high-risk for Fabry Disease (FD) in the Cleveland Clinic, Abu Dhabi (CCAD) United Arab Emirates (EMR) database from May 2016 to May 2022, according to the predictive algorithm (i.e., feasibility assessment eligibility criteria)

Secondary objectives:

• To estimate the prevalence of FD among patients at high-risk for FD (i.e., among enrolled patients)
• To characterize the patient profile, overall and in Cohorts 1 and 2
• To describe the most common characteristics among positive FD patients and negative FD patients

Study Overview

• Status: Completed
• Conditions: Fabry Disease

Detailed Description

Patients at high-risk for FD will be consecutively enrolled over approximately 6 months

• Study Type: Observational
• Enrollment (Actual): 15

Contacts and Locations

• Study Contact: Name: Trial Transparency email recommended (Toll free for US & Canada); Phone Number: option 6 800-633-1610; Email: Contact-US@sanofi.com

Study Locations

• United Arab Emirates
  • Abu Dhabi, United Arab Emirates, 11111
    • Cleveland Clinic AbuDhabi

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients with chronic kidney disease (Cohort 1) or hypertrophic cardiomyopathy (Cohort 2), who fulfill the criteria for being at high-risk for FD, per the predictive algorithm, and provide informed consent, will be eligible to participate in this study.

Description

Inclusion Criteria:

• Patients who were identified as high-risk for FD via the predictive algorithm per the feasibility assessment
• Patients who have signed an informed consent form

Cohort 1 (chronic kidney disease)

• Adult male patient ≤60 years old or adult female patient of any age
• Having chronic kidney disease
• Having proteinuria

• Having one or more of the following conditions:

  • Neuralgia and neuritis, unspecified
  • Disturbances in skin sensation
  • Anhidrosis, and
  • Hypertrophic cardiomyopathy.

Cohort 2 (hypertrophic cardiomyopathy)

• Adult male patient ≤50 years old or adult female patient of any age
• Having hypertrophic cardiomyopathy

• Having one or more of the following conditions:

  • transient cerebral ischemic attack,
  • chronic kidney disease.

Exclusion Criteria:

• Patients with an established diagnosis of FD.
• Pregnant subject at the time of the study.

The above information is not intended to contain all considerations relevant to a potential participation in a clinical trial.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Cohort 1; Patients with chronic kidney disease
Cohort 2; Patients with hypertrophic cardiomyopathy

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number and proportion of patients at high-risk for FD in the CCAD EMR database	The prevalence of patients at high-risk for FD in the CCAD EMR database, according to the predictive algorithm, from May 2016 to May 2022, will be estimated. The percentage (and 95% confidence interval [CI]) of patients at high-risk for FD will be calculated, overall and in Cohorts 1 and 2.	Up to 6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number and proportion of patients with FD (overall and among patients in Cohorts 1 and 2)	The prevalence of patients diagnosed with FD among patients at high-risk for FD (i.e., among enrolled patients) will be estimated. The percentage (and 95% CI) of patients diagnosed with FD will be calculated, overall and in Cohorts 1 and 2.	Up to 6 months
To describe the following patient characteristics, overall and in Cohorts 1 and 2:	The following patient characteristics will be summarized by descriptive statistics, overall and in Cohorts 1 and 2: demographics, physical examinations, medical history, comorbidities, concomitant medications, clinical symptoms, and FD diagnostic test results including test outcome for FD (positive/negative).	Up to 6 months
To describe the following patient characteristics, among positive FD patients and negative FD cases:	The following patient characteristics will be summarized by descriptive statistics, among positive FD patients and negative FD patients: demographics, physical examinations, medical history, comorbidities, concomitant medications, and clinical symptoms.	Up to 6 months

Collaborators and Investigators

• Sponsor: Sanofi
• Investigators: Study Director: Clinical Sciences & Operations, Sanofi

Study record dates

Study Major Dates

• Study Start (Actual): July 28, 2023
• Primary Completion (Actual): December 14, 2023
• Study Completion (Actual): December 14, 2023

Study Registration Dates

• First Submitted: December 20, 2022
• First Submitted That Met QC Criteria: December 20, 2022
• First Posted (Actual): January 5, 2023

Study Record Updates

• Last Update Posted (Actual): March 6, 2024
• Last Update Submitted That Met QC Criteria: March 4, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Fabry Disease
• Other Study ID Numbers: OBS17546

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD 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

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No