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Completed

NCT Number: NCT05671770

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

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

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Cleveland Clinic AbuDhabi

Abu Dhabi, 11111, United Arab Emirates

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Number and proportion of patients at high-risk for FD in the CCAD EMR database

    Time frame: 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 outcomes

  1. Number and proportion of patients with FD (overall and among patients in Cohorts 1 and 2)

    Time frame: 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.

  2. To describe the following patient characteristics, overall and in Cohorts 1 and 2:

    Time frame: 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).

  3. To describe the following patient characteristics, among positive FD patients and negative FD cases:

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Sanofi

Industry

Registry information

Official study title

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

Important dates

Study start
2023
Primary completion
2023
Study completion
2023
First posted
Jan 5, 2023
Registry last updated
Mar 6, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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