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

Sanofi

Status

Completed

Conditions

Fabry Disease

Study type

Observational

Funder types

Industry

Identifiers

NCT05671770

OBS17546

Details and patient eligibility

About

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

Full description

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

Enrollment

15 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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.