FH and Personalized Medicine

The Personalized Medicine Coalition has recognized FH treatments among those approved in 2015 by the FDA as personalized medicines.

“More Than 25 Percent of the Novel New Drugs Approved by FDA in 2015 are Personalized Medicines The transformation of health care from one-size-fits-all, trial-and-error medicine to a targeted approach utilizing an individual patient’s molecular information continues to accelerate as the U.S. Food and Drug Administration (FDA) more regularly and rapidly approves new personalized medicines.”

Familial Hypercholesterolemia (FH) is a great example of the power of personalized, or precision, medicine to identify and treat those at high risk before the onset of disease. FH is an inherited genetic disorder that causes very high cholesterol from birth and, left untreated, too often leads to early heart disease. FH is common, affecting 1 in 250. the Family Heart Foundation works to improve the rate of diagnosis and proactive treatment – less than 10 percent of those with FH are diagnosed. If we are successful, FH offers a real opportunity to demonstrate that personalized medicine can help prevent cardiovascular disease, the leading cause of death worldwide.

Understanding the genetic driver of this important risk factor for heart disease, health care providers can develop targeted treatment and prevention plans based on the diagnosis, an individual’s medical history, circumstances and values. Statins are the first line of treatment for FH, and other therapies such as ezetimibe, bile acid sequestrants, and LDL apheresis have been available for many years. But, because of their genetics, for many people with FH these treatments are not enough to lower their LDL cholesterol to acceptable levels. The new class of drugs known as PCSK9 inhibitors approved in 2015 (Amgen’s Repatha and Sanofi/Regeneron’s Prauluent) were developed based on the understanding of the genetics of FH. Recognizing the increased risk of early heart disease in the FH population, and the urgent unmet need for additional LDL lowering therapy, PCSK9 inhibitors were approved for treatment of FH by the FDA in 2015. In 2012, two first in class drugs were approved by the FDA for the treatment of homozygous FH (Aegerion’s Juxtapid and Genzyme’s Kynamro), arguably also personalized medicines.

This is an exciting time for personalized medicine and for FH diagnosis and treatment. The opportunity to change the outcome for those who have inherited FH with better diagnosis and treatment is real.

www.personalizedmedicinecoalition.org/Userfiles/PMC-Corporate/file/2015_Progress_Report_PM_at_FDA1.pdf