NCT lookup

Pull any trial record directly from ClinicalTrials.gov.

Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy

UnknownN/A

Sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Conditions: Fabry

Interventions: biomarkers

Countries: United States

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

Eligibility overview

Sex: ALL

Age: 18 Years to 70 Years

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

Inclusion Criteria:

* approved informed consent signed by the patients,
* Confirmed diagnosis of Fabry disease based on deficient α-Gal A enzymatic activity and molecular analysis demonstrating pathogenic variants in the GLA gene
* Male and Female, ages 18-70.

Exclusion Criteria:

* Any other known genetic condition associated with HCM,
* Evidence of hepatitis B or C infections or other chronic infectious diseases,
* Pregnancy or breastfeeding.

Locations (1)

Fairfax, Virginia, United States