A cure for an ultrarare disease, progeria, could be on the horizon. The disease speeds up aging in children and dramatically shortens their lives. But, until recently, there was no path toward a highly effective treatment.
Now, a small group of academics and government scientists, including Dr. Francis Collins, the former director of the National Institutes of Health, is working with no expectation of financial gain to halt progeria in its tracks with an innovative gene editing technique.
If gene editing is effective in slowing or halting progeria, researchers say, the method may also help to treat other rare genetic diseases that have no treatments or cures and, like progeria, have aroused little interest from drug companies.
N.I.H. researchers first sought to improve the health of mice with progeria. They started with a tentative single infusion of the base editor.
The results, documented in a 2021 paper, far exceeded their cautious hopes. Almost all of the damage to large heart arteries, a hallmark of the disease, was reversed. The mice looked healthy. They kept their hair.
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Their goal is to obtain permission from the Food and Drug Administration to start a clinical trial.
A key step will be finding a manufacturing partner to make the base editor for use in humans.
“We want to start this trial in two years or less,” Dr. Collins said.
And if it works? If progeria base editing helps show the way for the thousands of other genetic diseases with no treatment?
“Then wow,” Dr. Collins said.
