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

Completed
Conditions
Fabry Disease
Registration Number
NCT05671770
Lead Sponsor
Sanofi
Brief Summary

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

Detailed Description

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

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
15
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 & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Number and proportion of patients at high-risk for FD in the CCAD EMR databaseUp to 6 months

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.

Secondary Outcome Measures
NameTimeMethod
Number and proportion of patients with FD (overall and among patients in Cohorts 1 and 2)Up to 6 months

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.

To describe the following patient characteristics, among positive FD patients and negative FD cases:Up to 6 months

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.

To describe the following patient characteristics, overall and in Cohorts 1 and 2:Up to 6 months

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).

Trial Locations

Locations (1)

Cleveland Clinic AbuDhabi

🇦🇪

Abu Dhabi, United Arab Emirates

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