Fabry Disease
Conditions
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
Interventions
None listed
Sponsors
Sanofi
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number and proportion of patients at high-risk for FD in the CCAD EMR database | Up 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
| Measure | Time frame | Description |
|---|---|---|
| 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, 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). |
| 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. |
Countries
United Arab Emirates
Outcome results
None listed