As of November 20, Zokinvy has been approved by the FDA for the treatment of Hutchinson-Gilford progeria syndrome (progeria) and a few other progeroid laminopathies in patients aged one year old or older. This treatment aims to lower the risk of death in affected individuals, as progeria typically results in cardiac failure, a heart attack, or stroke by age 15.

About Progeria

Progeria, which is also known as Hutchinson-Gilford progeria syndrome, is a very rare, fatal, pediatric, genetic disease, and it resembles premature aging. While children are born without any signs of the disease, the onset of symptoms begin at early infancy. This disease is caused by a mutation on the LMNA gene, which is essential for the protein of the membrane that surrounds the nucleus. Because of the deficiency of this protein, the nucleus becomes unstable. Premature aging comes from this instability of the nucleus. While progeria is a genetic disease, it is not usually inherited. Instead it is the result of a random mutation.

The first symptoms that appear are a localized scleroderma-like skin condition and failure to thrive. After these symptoms appear, other physical abnormalities begin to appear, such as prominent eyes, a thin nose, a small chin, protruding ears, hair loss, wrinkled skin, joint issues, and weight loss. As a child ages they will experience the hardening of arteries, which then leads to severe heart problems. At two years old, the physical abnormalities begin to become noticeable, which is usually when the disease is diagnosed. Special imaging tests can also be ordered to further investigate cardiovascular issues or skeletal abnormalities. While there is a drug, lonafarnib, that has been shown to treat progeria, it is not FDA approved. Because of this lack of approval, the only treatments for this disease are symptomatic. That is, until now. The approval of Zokinvy marks a large step in the right direction for the treatment of progeria.

About Zokinvy

Zokinvy is a farnesyltransferase inhibitor that is administered orally in capsule form. Its aim is to prevent an accumulation of defective progerin or proteins that mimic progerin in the cells. Without this build-up, the characteristic symptoms and complications will not appear or appear much slower.

This treatment was shown to be effective in a trial of 62 patients in two single-arm trials. When compared to untreated individuals, Zokinvy was proven to increase the lifespan of progeria patients by two and a half years.

Approval for this drug states that it can also be administered in combination with CYP3A inhibitors and inducers, certain medications that lower cholesterol, and midazolam. It also tells us that the most common side effects are diarrhea, vomiting, fatigue, infection, decreased appetite, and nausea.

As progeria patients faced a severely unmet medical need, the approval of Zokinvy is a very exciting development. You can learn more about it here.