First identified in the late 19th century, progeria—or Hutchinson-Gilford progeria syndrome—triggers premature, rapid aging in young children. For decades, no approved treatments existed. Now, the U.S. Food and Drug Administration (FDA) has greenlit Zokinvy, the first targeted therapy, which extends average life expectancy by 2.5 years.
This ultra-rare genetic disorder affects roughly 500 children worldwide, causing accelerated aging symptoms from 18-24 months old: stunted growth, hair loss, distinctive facial features like a small head, underdeveloped jaws, and pinched nose. Over time, it leads to skin aging, bone loss in clavicles and fingers, and severe cardiovascular issues.
On November 20, 2020, the FDA announced approval of Zokinvy (lonafarnib) from Eiger BioPharmaceuticals. "Zokinvy has received Orphan Drug designation, providing incentives to aid and encourage drug development for rare diseases," states the official press release. This breakthrough stems from decades of work by the Progeria Research Foundation.
Progeria stems from early buildup of progerin, a faulty protein all humans produce later in life (around age 50-60). In affected children, it accumulates from birth, driving the disease.
Since 2007, the Progeria Research Foundation and Eiger BioPharmaceuticals conducted two rigorous clinical trials involving about 60 children and young adults. Advocacy from patients like Italian progeria warrior Sammy Basso, who recently turned 25, helped propel this research.
Zokinvy's active ingredient, lonafarnib, blocks progerin's harmful effects, adding a vital 2.5 years to life expectancy—a game-changer for the first approved therapy. Without treatment, children typically succumb around age 12 to heart failure, stroke, or heart attack.
