Clinical trial NCT05671770: Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE (HOPE Fabry)
Official title: Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2023-01-05
Enrollment: 15
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
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.

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

Eligibility criteria: 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.

Primary outcomes:
measure: Number and proportion of patients at high-risk for FD in the CCAD EMR database
timeFrame: Up to 6 months
Secondary outcomes:
measure: Number and proportion of patients with FD (overall and among patients in Cohorts 1 and 2)
timeFrame: Up to 6 months
measure: To describe the following patient characteristics, overall and in Cohorts 1 and 2:
timeFrame: Up to 6 months
measure: To describe the following patient characteristics, among positive FD patients and negative FD cases:
timeFrame: Up to 6 months
Other outcomes:
Locations:
city: Abu Dhabi
country: United Arab Emirates
facility: Cleveland Clinic AbuDhabi
Study officials:
affiliation: Sanofi
name: Clinical Sciences & Operations
role: STUDY_DIRECTOR
References: