A new drug has been developed against progeria, a rare disease responsible for accelerated aging due to the accumulation of a protein, progerin. By preventing its formation, the new drug could add two and a half years of life, to progeria sufferers while the current life expectancy is on average 12 years.
It is the first drug that deals with a rare disease responsible for the abnormal and accelerated aging of children (one in a million births), giving them the appearance of old age at a very early age. Until now, Progeria, also known as Hutchinson-Gilford syndrome, which affects less than 500 people in the world, had no treatments at all. However, a few days ago, at the end of November, a first drug, Zokinvy (Lonafarnib, Eiger BioPharmaceuticals, Inc.), has just received the green light from the Food and Drug Administration to treat the condition.
A mechanism that normally should have taken place about 50 or 60 years ago.
This is a historic breakthrough, thanks to the work of an institute specializing in this disease, the Progeria Research Foundation (Peabody, Massachusetts). Due to the early accumulation of a defective protein, progerin, in the cells, patients develop some type of cardiovascular disease very quickly and often die before the age of 15 from heart failure, heart attack, or stroke. In fact, this protein is produced by the body, but it usually starts to accumulate around the age of 50 or 60. In patients with progeria, this mechanism occurs much earlier, from birth.
Since 2007, two clinical trials have been carried out in which about sixty children and adolescents have participated, including the Italian researcher Samy Basso, who was affected by the disease and who on, December 1st, celebrated his 25th birthday.
A molecule destined to less than 500 patients in the world
The molecule, a farnesyltransferase inhibitor that helps prevent the accumulation of progerin, could add another two and a half years of life according to the results shown in the study. This is an enormous gain considering that the life expectancy of the disease on average is less than 15 years. Other therapeutic approaches are also being investigated. A French team is looking into a molecule called MG132, which has the double capacity of considerably reducing the production of progerin, but also of breaking it down as it forms.
Another therapeutic hope is the CRISPR-Cas9 technique. A world-first published in Nature in 2019, preclinical tests on mice by an American and a Spanish team showed that the disease could be significantly slowed down thanks to this state-of-the-art technology.
However, it remains to be seen how much the innovative molecule will cost for each patient as there are less than 500 patients worldwide. The laboratory also announced that the patients would receive financial support to help them pay for the treatment.