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Studies

Interventional Active not recruiting

NCT04943991 on ClinicalTrials.gov

Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score

  • Sponsor: Wuerzburg University Hospital
  • Collaborators: Takeda
  • Enrollment: 200 (Actual)
  • Study start: 2021-07-01 (Actual)
  • Primary completion: 2022-10-01 (Actual)
  • Study completion: 2024-10-01 (Estimated)
  • Allocation: N/a
  • InterventionModel: Single Group
  • Masking: None
  • PrimaryPurpose: Screening

Brief Summary

This study aims to evaluate the prevalence of Fabry Disease (FD) among a cohort of high risk patients with left ventricular hypertrophy (LVH) presenting at the University Hospital Würzburg over the last 20 years. Fabry disease is a rare disease that is known to be consistently underdiagnosed due to its largely variable symptoms.

Considering that an early Fabry diagnosis is crucial for maximum benefit from therapies available, screening for Fabry patients can contribute to preventing development and worsening of symptoms in Fabry patients with LVH.

In addition, a positive diagnosis in a family member opens the possibility to diagnose further family members in an earlier stage of the disease, therefore allowing treatment of symptoms and organ manifestations before they become irreversible.

Conditions

  • Fabry Disease
  • Fabry Disease, Cardiac Variant
  • Lysosomal Storage Diseases
  • HCM - Hypertrophic Cardiomyopathy
  • Anderson Fabry Disease

Intervention / Treatment

  • Diagnostic Test: blood sampling (alpha-Galactosidase & LysoGb3)

Primary Outcome Measures

  • Alpha Galactosidase level (1 day (Once after inclusion & informed consent))
    A blood sample will be taken to determine alpha-galactosidase level. If alpha-galactosidase level is low, FD specific genetic testing is advised (outside this study in the regular clinical routine).
  • Lyso-GB3 level (1 day (Once after inclusion & informed consent))
    A blood sample will be taken to determine alpha-galactosidase level. If LysoGb3-level is high, FD specific genetic testing is advised (outside this study in the regular clinical routine).
  • Genetic testing (1 day (Once after inclusion & informed consent))
    Optional testing of fabry specific GLA-gene

Countries

Germany

Locations and Investigators

  • University Hospital Wuerzburg, Wuerzburg, Germany