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A therapeutic regimen consisting of dietary cholesterol supplementation and the antioxidant formulation DEKAS Plus, currently under investigation in Phase 2 clinical trials by the University of Colorado, Denver. This combination therapy is designed to treat Smith-Lemli-Opitz Syndrome (SLOS), a genetic disorder characterized by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7). By providing exogenous cholesterol, the treatment aims to normalize plasma cholesterol levels and suppress the endogenous synthesis of 7-dehydrocholesterol (7-DHC). The addition of DEKAS Plus, which contains vitamin E and other antioxidants, is intended to mitigate the formation of neurotoxic oxysterols derived from the accumulation of 7-DHC and 8-DHC, thereby potentially improving retinal function and hearing in affected patients.
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