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Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy

NCT04724083 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2021-01-27

No results posted yet for this study

Summary

In Fabry disease (FD), α-galactosidase A deficiency leads to the accumulation of globotriaosylceramide (Lyso-Gb3 and Gb3), triggering a pathologic cascade that causes progressive damage to multiple organs, including the heart. The heart is one of the organs that is very sensitive to the deficiency of α-galactosidase A. There is a subgroup of patients with significant residual α-galactosidase activity and a phenotype with primary cardiac involvement, occasionally referred as "cardiac variant." The manifestations of cardiac involvement in FD are left ventricular hypertrophy (LVH), diastolic dysfunction, microvascular angina. Cardiac hypertrophy is the most common cardiac pathology and cause of death in patients with FD. The elevation of the inflammatory markers strongly demonstrates that chronic inflammation drives the cardiovascular pathophysiology in FD. Moreover, plasma TNF, TNFR2, Il-6 specifically elevated in FD patients with cardio hypertrophy.

The chronic inflammation in combination with elevated Lyso-Gb3 further drives the FD progression even under therapy. The expression of the endothelial-cardiomyocyte growth factors will change in response to chronic inflammation during the development of cardiac hypertrophy.

This is a clinical observational study designed to identify the role of inflammatory signaling markers and secreted growth factors in the progression of cardiac pathology in FD

Conditions

  • Fabry

Interventions

DIAGNOSTIC_TEST

biomarkers

new diagnostic biomarkers

Sponsors & Collaborators

  • Sanofi

    collaborator INDUSTRY

  • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    lead OTHER

Principal Investigators

  • Ozlem Goker-ALpan, MD · Lysosomal and Rare Disorders Research and Treatment Center

Eligibility

Min Age
18 Years
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-12-01
Primary Completion
2022-05-01
Completion
2022-08-01

Countries

  • United States

Study Locations

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Entities

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 NCT04724083 on ClinicalTrials.gov