Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy
Status unconfirmed
Conditions studied: Fabry
In brief
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
Key facts
- Study ID
- NCT04724083
- Run by
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
- People needed
- 50
- Starts
- 2020-12-01
- Expected to finish
- 2022-08-01
- Last updated by the study team
- 2021-01-27
Who can join
Age: 18 and older, up to 70. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- Any other known genetic condition associated with HCM,
- Evidence of hepatitis B or C infections or other chronic infectious diseases,
- Pregnancy or breastfeeding.
Where it is running
- Lysosomal and Rare disorder research and treatment center — Fairfax, Virginia, United States (enrolling)
Full record on ClinicalTrials.gov
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