This condition ages people at light speed, and the oldest person with it just died at 28
Key Takeaways
Progeria is an extremely rare genetic disorder that accelerates aging, typically leading to death by age 14, though advancements in treatment are increasing life expectancy.
The oldest known individual with progeria recently passed away at 28, but not before making significant contributions to research for better treatments and a potential cure for his disease.
Progeria, a very rare genetic disease that ages the body at a much faster rate than usual, takes the life of those who have it during adolescence (at around age 14), but it is possible to exceed that by several years. On October 5, 2024, the oldest known person with the disease, Sammy Basso, died at the age of 28, according to the Progeria Research Foundation (PRF).[]
An unusual disorder that affects only about 400 individuals around the world at any time, it has been referred to as the “Benjamin Button” disease.
But unlike the main character in the movie The Curious Case of Benjamin Button, who is born old and grows younger over time, patients with progeria rapidly progress to experience the effects of old age before leaving childhood.
Basso was unique not only for his longevity but also for the fact that he was a researcher, specializing in molecular biology, involved in the search for effective treatments—and a possible cure—for his own affliction.
About progeria
Progeria, officially called Hutchinson-Gilford progeria syndrome, is caused by a mutation in the LMNA gene, which produces the lamin A protein, part of the structure of the nucleus of a cell.[] The abnormal protein produced is called progerin, and its presence in cells throughout the body is toxic, accelerating the aging process.
The initial signs of the disease emerge in the first year of life, with tightness or bulging of the skin around the abdomen and thighs. Characteristic features as children grow older are wrinkled skin, baldness, and stunted growth, resulting in an average maximum height of just over 4 feet and an average weight of 55 pounds. Affected individuals have accelerated atherosclerosis and heart disease and nearly always die from myocardial infarction or stroke.
A positive spin on a dire situation
Basso was born in 1995 in Schio, Italy, and was 2 years old when he was diagnosed with progeria.[] He was among the first patients to participate in clinical trials of potential treatments run by the PRF and was the first individual with progeria to undergo transcatheter aortic valve implantation to treat aortic valve stenosis, paving the way for others who develop the condition as life expectancies increase with improving treatments.[]
Over the years, Basso traveled the world to help raise awareness of progeria, serving as a PRF Ambassador. He maintained a positive outlook on life despite knowing that it would be dramatically shortened. In an obituary in STAT, he was quoted as once saying, “In a way, I should thank progeria. Progeria does not prevent me to have a happy life. Maybe without progeria, I wouldn’t have understood that biology and science is my path.”[]
Helping in the search for treatments
There has been progress in the quest for treatments for progeria thanks to the efforts of Basso and others. Basso volunteered to take part in a clinical trial of lonafarnib, which inhibits the farnesylation of progerin, thereby inhibiting the buildup of the mutated protein, slowing the progression of symptoms, and extending life expectancy. The drug became the first treatment for progeria approved by the US FDA, clearing that hurdle in 2020.[]
A study in JAMA showed that patients with progeria who were treated with lonafarnib had a significantly lower mortality rate over about 2 years of follow-up compared with those who received no treatment.[]
A subsequent study published in Circulation estimated that use of the drug can extend life expectancy by an average of 4.5 years, a substantial gain for a disease in which most patients won’t reach adulthood.[]
Numerous other potential treatments are under investigation, with promising preliminary results mostly from animal studies, according to the Italian Progeria Association.[] Therapies that are currently being studied include pravastatin, zoledronic acid, everolimus, antisense oligonucleotides, Morpholinos, anti-interleukin medications, and progerinin, which binds to progerin, thereby lowering the levels in the body. Researchers are looking into genetic editing techniques to get at the root cause of progeria as well.
The PRF stresses that the search for ways to help children afflicted with progeria will, at the same time, provide important insights into aging and atherosclerosis that will have broader implications for the population at large.[]
“Thus there is clearly a tremendous need for research in progeria,” the group says. “Because finding a cure for progeria will not only help these children but may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process.”
What this means for you
Progeria is a very rare genetic disease, affecting only about 400 children in the world at any one time. Although the diagnosis is fatal, with patients living to an average age of only 14.5 years, there is at least one approved medication, lonafarnib, that has been shown to reduce mortality risk and increase life expectancy by several years.