The Circle of Kindness Foundation has taken a significant step to help Russian children with progeria, often referred to as “Benjamin Button’s disease.” The foundation’s expert council has added the condition to its list and recommended funding for the drug Zokinvy (lonafarnib), produced by the American Sentynl Therapeutics, a subsidiary of the Indian pharmaceutical firm Zydus Lifesciences.
The medical name for the disease is Hutchinson-Gilford progeria syndrome. It is an extremely rare genetic condition, affecting approximately 1 in 4 million newborns. A genetic mutation causes the accumulation of a toxic protein called progerin in cells, leading to accelerated aging. This results in severe problems with the cardiovascular system and the premature aging of muscle and bone tissues. Without treatment, the average life expectancy for children with progeria is just 14.5 years.
Zokinvy is currently the only drug that treats the underlying cause of progeria. According to the Foundation, clinical research and international experience demonstrate that lonafarnib reduces the concentration of progerin in cells. This leads to significant improvements in bone structure, reduced vascular stiffness, a lower risk of heart attacks and strokes, and helps patients gain weight and grow.
Given the extreme rarity of progeria, the drug is expected to be prescribed to only 5-6 patients per year in Russia. Zokinvy is not registered in the country, and the annual cost of treatment is approximately $1 million.
In a separate decision, the Foundation has also expanded the use of the drug ravulizumab. This medication, already registered in Russia and on the Circle of Kindness list for treating atypical hemolytic uremic syndrome (aHUS), will now also be indicated for thrombotic microangiopathy (TMA). TMA is a serious complication following hematopoietic stem cell transplantation, involving irreversible damage to blood vessels by microthrombi. This therapy is expected to benefit 10-15 children annually.
The reference drug is Ultomiris (ravulizumab), produced by the French company Alexion, a division of AstraZeneca that specializes in rare diseases. In a related development, the Russian Ministry of Health approved the initiation of clinical trials for the first domestic biosimilar of ravulizumab, GNR-118, developed by the company Generium, in September this year.
