Standards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia.


The study of orphan diseases, defined by the US Food and Drug Administration as any condition that affects <200 000 people nationwide, has been crucial not only in our understanding of disease pathophysiology and gene discovery but also in therapeutic development. Individuals with orphan conditions have played an active role not only in improving care of their own condition but often in improving the care of individuals with more common conditions by participating in clinical trials, donating biospecimens, and even through advocacy. Nowhere has this been more evident recently than in the field of lipidology, where the study of orphan conditions such as homozygous familial hypercholesterolemia, a rare condition generally caused by biallelic mutations in LDLR, or lysosomal acid lipase deficiency has led to the Food and Drug Administration approval of specifically targeted therapies (lomitapide, mipomersen and the PCSK9 inhibitor evolocumab for the former, and sebelipase alfa for the latter).

DOI: 10.1161/ATVBAHA.116.307714

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@article{Priest2016StandardsOE, title={Standards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia.}, author={James Rush Priest and Joshua W . Knowles}, journal={Arteriosclerosis, thrombosis, and vascular biology}, year={2016}, volume={36 8}, pages={1465-6} }