A rare, but fatal genetic disease that accelerates aging in children, progeria, could soon have a cure, The New York Times reported July 24.
The disease affects only 1 in every 4 million to 8 million live births, and causes early signs of aging from balding and wrinkles, to arthritis, cataracts, tough skin, and stiff joints. The prevalence of the disease overall is about 1 in 18 million to 20 million worldwide, according to the Progeria Research Foundation, with about 400 children living with the condition presently — 18 of whom are in the U.S.
On average, a child with the disease can live 14.5 years, but some as young as 6 years old have died as a result of it.
There has been no cure and no way to prevent the genetic disorder yet, but one group of academics and government scientists might be close to doing so, using a gene editing technique, according to The Times.
A therapy known as long-term lonafarnib treatment has so far been the only key to increasing the lifespan of diagnosed patients. With continued treatment, life expectancy has been shown to improve for these children on average by four and half to seven years, according to the Progeria Research Foundation.
But gene editing techniques coming onto the scene promise even more than that.
In 2021, the Progeria Research Foundation announced publication of a breakthrough in a genetic editing study done in mice for the disease, which yielded a 90% success rate in editing the necessary cells.
"When my research lab identified the genetic cause of progeria in 2003, we hoped that someday this might lead to a way to help these children," Francis Collins, MD, PhD, former director of the National Human Genome Research Institute, said in 2021. "...[W]e’ve made some progress with drug therapy, but the potential of actually correcting the fundamental cause at the DNA level is beyond anything we could have imagined back then. To see this dramatic response in our Progeria mouse model is one of the most exciting therapeutic developments I have been part of in 40 years as a physician-scientist."
Fast-forward a few years, now in 2024, things are looking more promising.
A gene editing tool, known as CRISPR, has made possible advancements in treating genetic diseases. That, combined with further research from physician and Harvard professor David Liu, PhD, allowed for genes to be edited at the site of mutation by essentially erasing an enzyme in DNA, like adenine, and instead write in guanine, which is particularly useful for treating Progeria, The Times reported.
The success seen in experiments so far with mice living to 510 days after being treated for Progeria, rather than dying at 215 days, has led to new experiments seeing if the therapy allows mice to live into older ages. From there, they will pursue FDA approval and determine next steps for getting the treatment to children in need.