U.S., April 2 -- ClinicalTrials.gov registry received information related to the study (NCT07506083) titled 'Natural History in Fabry Disease With IVS4+919G>A Mutations' on March 26.
Brief Summary: Fabry disease (FD) is a genetic condition where mutations in the GLA gene cause low activity of an important enzyme (alpha-Galactosidase A). This leads to harmful substances building up in the body. A key marker is lyso-Gb3, which can damage organs. FD commonly affects the heart, causing left ventricular hypertrophy (LVH), fibrosis, and worsening heart function over time.
In East Asian populations, the exact natural progression of FD is not well understood, even though a specific mutation called IVS4+919G>A is relatively common due to a "founde...