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Progress in the quest to help progeria patients suggests that gene editing techniques may help treat other ultrarare conditions.
Sam Berns, with his parents Leslie and Scott. Sam, a Foxborough High School student who had progeria, died in 2014 at age 17. HBO Documentaries
By Gina Kolata, New York Times Service
updated on July 25, 2024 | 9:19 AM
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, a 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.
After a quarter-century of research, the group is approaching manufacturers and planning to seek approval from regulators for a clinical trial on progeria gene editing.
John Tacket, 15, of Bay City, Mich., at a news conference with Dr. Francis Collins in 2003, announcing the discovery of the progeria gene. John died the next year. – Gerald Herbert / AP
The project “has merit, but also risk,” said Dr. Kiran Musunuru, a gene editing researcher at the University of Pennsylvania, who also advises a gene editing company. He cautioned that although the editing worked well in mice, there is no guarantee that it will work in human patients.
Collins first became interested in progeria while he was training in medical genetics at Yale University in 1982, almost three decades before he was appointed to lead the NIH. One day, he saw a new patient, Meg Casey. She was less than 4 feet tall, hairless under her wig and wrinkled like an older woman. She was only in her 20s.
She had progeria.
Collins was saddened and moved. Almost nothing was known about the disease, which affects just 1 in 18 to 20 million people. According to the Progeria Research Foundation, there are only 18 known, living patients in the United States. While Casey and others have survived into their 20s, people with the disease often live to be only 14 or 15 years old, and many of them die from heart attacks or strokes.
“I thought, ‘Gosh, somebody should work on this,’” Collins recalled. “Then I went on to other things.”
Nineteen years later, Collins, who then headed a federal project to map the human genome, was at a party when he was approached by Dr. Scott Berns, a pediatric emergency room physician.