Photo by freestocks on Unsplash
By: Boris Salinas
The U.S. Food and Drug Administration has finally approved a treatment that gives children with a rare genetic disease that causes premature aging more time to enjoy life. Hutchinson-Gilford progeria syndrome (progeria for short), a disease that causes teenagers to die due to heart attack, stroke, or heart failure. Most of these children are expected to die before achieving the age of 15. Zokinvy is the first and only approved treatment for progeria which was approved on November 20, 2020.
In a clinical trial, which included 62 children receiving the drug, as well as 81 who would not take the drug. Zokinvy was proven to increase the life span by 3 months on average after the first three years of treatment. For those children who received Zokinvy for up to 11 years, their life spans were extended by about 2 years and 6 months.
Progeria is caused by a mutation of the LMNA, or lamin A gene. Lamin A is the framework of the nucleus that holds the cell together. Researchers currently believe that the mutation of the lamin A gene causes the defective lamina A protein to destabilize the nucleus. This instability is the cause of premature aging in progeria patients. Children with progeria have an elevated amount of progerin, generated by a single nucleotide polymorphism. The protein is unable to pass through the cell membrane and cannot be recycled for new proteins, causing cells to age prematurely, which then causes stiffness in connective tissue and blood vessels.
Everyone’s bodies make progerin, the amount is then elevated as a person begins to age. However, children with progeria create an abnormal amount of it. At birth, these children look like any other, symptoms appear later around the age of two. Over their lifetimes, these children will lose body hair and body fat, gain joint stiffness, cardiovascular disease, and many other symptoms that are associated with accelerated aging.
Zokinvy was created by a company called Eiger Biopharmaceuticals from Palo Alto, California. This drug is meant to lower the amount of progerin that is produced, as well as lower the amount that is accumulated in cells. These oral pills do not fully block production, and the amount digested is limited due to side effects such as vomiting, diarrhea, infections, nausea, decreased appetite, fatigue, upper respiratory infection, abdominal pain, muscle and joint pain, and electrolyte abnormalities.
With the approval of Zokinvy by FDA, researchers can now focus on other drugs and therapeutics that could further extend the lives of children that suffer from progeria. The possibility of using gene therapy to fix the mutation that causes the disease are also being investigated.
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