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February 17, 1993

First Gene Therapy for Inherited Hypercholesterolemia a Partial Success

JAMA. 1993;269(7):837-838. doi:10.1001/jama.1993.03500070013002

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NEW GENES delivered to her liver have significantly lowered the life-threatening cholesterol levels of a 29-year-old Canadian woman. The woman has severe familial hypercholesterolemia, the rare disease in which the liver lacks the receptor for low-density lipoprotein (LDL) and is therefore incapable of clearing the "bad" form of cholesterol from her blood.

The researchers who performed the procedure are predicting that a less invasive gene therapy protocol may be a viable approach to the milder form of the disease if further trials continue to demonstrate safety and efficacy. The milder form affects one in 500 people, placing them at high risk for heart attacks in their 40s and 50s. People with other enzymatic and metabolic disorders may also make good candidates for this new treatment approach, particularly lipid storage diseases and disorders in which the body lacks the enzymes that break down sugars into usable forms.

Repairing the Cell, Ex