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

NCT04943991 · Status: ACTIVE_NOT_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 200

Last updated 2024-06-12

No results posted yet for this study

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

Interventions

DIAGNOSTIC_TEST

blood sampling (alpha-Galactosidase & LysoGb3)

A blood sample will be taken. Alpha-Galactosidase level and LysoGb3 will be measured. Amendment: Offering of genetic testing for fabry specific GLA-gene

Sponsors & Collaborators

  • Takeda

    collaborator INDUSTRY

  • Wuerzburg University Hospital

    lead OTHER

Study Design

Allocation
NA
Purpose
SCREENING
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-07-01
Primary Completion
2022-10-01
Completion
2024-10-01

Countries

  • Germany

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04943991 on ClinicalTrials.gov