Discovered at the end of the 19th century, progeria leads to abnormal and rapid aging in patients very early on. However, there was no treatment until recently. A US institute has just presented a drug. This does not completely cure the disease. However, it would still save two and a half years of life expectancy.
Progeria or Hutchinson-Gilford syndrome is an extremely rare genetic disease. This causes abnormal and accelerated aging from childhood (between 18 and 24 months). The symptoms are numerous:delayed growth, accelerated hair loss and characteristic facial morphology. Indeed, people affected generally have a small head and jaws as well as a pinched nose. Over time, we notice in particular an accelerated aging of the skin , osteolysis of the clavicles and phalanges, and cardiovascular problems.
Reaching about 500 people worldwide , progeria has just been talked about again. In a press release dated November 20, 2020, the Food and Drug Administration (FDA) explained that it had given the green light to the Eiger BioPharmaceutical laboratory for its drug called Zokinvy.
"Zokinvy has received Orphan Drug designation, providing incentives to aid and encourage drug development for rare diseases “, can we read in the press release. This is a true step forward made possible by advances in the Progeria Research Foundation.
The body of patients with progeria is subject to an early accumulation in their cells of a defective protein:progerin . The fact is that the latter is produced by all humans. However, it usually only occurs at a certain age (around fifty or sixty). However, patients begin to accumulate it practically from birth.
The Progeria Research Foundation and Eiger BioPharmaceuticals have since 2007 conducted two clinical trials about sixty children and young people. At the origin of this research, we find Sammy Basso, an Italian also suffering from progeria (see below) and who recently celebrated his 25th birthday.
The drug Zokinvy contains lonafarnib, a molecule allowing researchers to gain two and a half years of life expectancy . However, this is a very significant time saving, especially for a very first drug against this disease. Remember, however, that patients often die before the age of fifteen, twelve years on average, due to heart failure, a heart attack or a stroke.
