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Pharma Firms Target LDL Mutation

Three of the world’s largest pharmaceutical firms are dashing to develop a drug that mimics the effects of an exceedingly rare genetic mutation that causes LDL cholesterol levels to be dramatically low, writes Gina Kolata, of the New York Times.

The scramble between Amgen, Pfizer, and Sanofi is spurred by a mutation in PCSK9 that has been found in two people so far – one woman in Dallas and another in Zimbabwe – who have LDL levels of 14 and15, respectively. The average is LDL level is well over 100.

Some mutations in PCSK9 have been known to cause heightened LDL levels for a decade, but another mutation was found that does the opposite – causing one copy of the gene to malfunction while the other is normal. Individuals with that single mutation have lowered LDL levels, and nearly no risk of heart attack.

This finding set off a search that led to the discovery of the two women who inherited the mutation from both parents. The woman in Zimbabwe was discovered by researchers from South Africa, but they have lost contact with her.

The three pharma companies all have drugs in clinical trials that would mimic this mutation, push down LDL levels, and presumably prevent heart attacks.

“This is our top priority,” Sanofi’s Andrew Plump, head of translational medicine, told the Times. “Nothing else we are doing has the same public health impact.”

Gary Gibbons, director of the National Heart, Lung, and Blood Institute, estimates that as many as two million Americans could be candidates for such a drug if it were injectable, but that if a pill for is developed it could be used by as many as one in four adults.