Throughout years of research, we have discovered a genetic disease progeria, which we have been unable to find a cure for. Progeria, also known as Hutchinson-Gilford syndrome, is an aging genetic disorder that causes rapid growth among the children who have it. A recent breakthrough of an oral treatment that would help the disease in children has been approved by the FDA to help treat the disease. Most children who have this disease die shortly before reaching the age of 15, and this treatment, Zokinvy, or lonafarnib, can help these affected patients in various ways. Zokinvy is actually the first and rather only approved drug that the FDA promotes and although this does not serve as a cure to the disease, it would help slow the pace of the disease which would result in a longer lifespan. Analyzing this disease resulted in discoveries such as the cause of this illness, which is a mutation in the genetic code. The development of Zokinvy helped discover more details about the disease.
The mutation affects the gene that helps produce protein lamin A, and children who have progeria have substantial amounts of a defective protein called progerin, which is just lamin A but with extra pieces attached. This causes the rapid growth in those with the disease and also impacts how their cells recycle and carry out the production of blood cells. Every individual produces progerin, but those with progeria make an extreme amount, which makes them age faster eventually as the amount of progerin affects their body systems. Children diagnosed with progeria appear normal in the first 2 years of life but the effects of the disease begin to appear and often result in death before the age of 15 for many. About 350 to 400 children globally have this disease, and there is no cure for it yet, but this treatment, Zokinvy, can tremendously affect the children by slowing down growth and increasing their chance of living longer past the age of 15. Farnesyltransferase inhibitor is a drug in Zokinvy that affects the toxic buildup of progerin, which is detrimental for the body, but the inhibitor helps to control it.
Zokinvy has also been implemented for use in other syndromes besides just progeria such as progeroid laminopathies, which also consists of rapid aging. It also assists with heterozygous LMNA mutations with progerin-like protein accumulation or compound heterozygous ZMPSTE24 mutations. Zokinvy could truly make breakthroughs in science and make drastic progress for progeria. Perhaps, this treatment would lead to further treatments that would eventually be a cure to this rare, aging disease. Eiger BioPharmaceuticals took over the treatment after Merck dropped it and developed it, in hopes of finding an effective treatment. In a clinical trial of about 62 patients, Zokinvy increased the average time of survival by 2.5 years and a possible follow-up of eleven years, a leap compared to the given lifespan of the children diagnosed with the disease. This has shown to be effective, and has been approved by the FDA and the FDA granted a rare pediatric disease priority review voucher, which will help establish a more permanent cure.
Although Zokinvy has been approved to help progeria, there is still a long way until a permanent cure can be produced. With time, there will hopefully be a breakthrough that changes the outcome of progeria as Eiger is working to distribute and work on the treatment heavily for improvement and progress. Zokinvy is definitely the first step of the arduous journey to curing the disease.
Effects of progeria and how it appears in the children as young as a few years old.
Sajia Athai, Youth Medical Journal 2020
- Liu, A. (2020, November 23). FDA approves first drug, Eiger’s Zokinvy, for rare rapid-aging disease. Retrieved November 29, 2020, from https://www.fiercepharma.com/pharma/fda-approves-first-drug-zokinvy-by-eiger-for-rare-rapid-aging-disease
- Wilke, C. (2020, November 25). The FDA has approved the first drug to treat the rapid-aging disease progeria. Retrieved November 29, 2020, from https://www.sciencenews.org/article/fda-approved-first-drug-treat-rapid-aging-disease-progeria
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