The drug, described in The New England Journal of Medicine, is believed to be the first “custom” treatment for a genetic disease. It is called milasen, named after the only patient who will ever take it: Mila (mee-lah) Makovec, who lives with her mother, Julia Vitarello, in Longmont, Colo.
Mila, 8, has a rapidly progressing neurological disorder that is fatal. Her symptoms started at age 3. Within a few years, she had gone from an agile, talkative child to one who was blind and unable to stand or hold up her head. She needed a feeding tube and experienced up to 30 seizures a day, each lasting one or two minutes.
Ms. Vitarello learned in December 2016 that Mila had Batten’s disease. But the girl’s case was puzzling, doctors said. Batten’s disease is recessive — a patient must inherit two mutated versions of a gene, MFSD8, to develop the disease. Mila had just one mutated gene, and the other copy seemed normal. That should have been sufficient to prevent the disease....
In March 2017, Dr. Timothy Yu and his colleagues at Boston Children’s Hospital discovered that the problem with the intact gene lay in an extraneous bit of DNA that had scrambled the manufacturing of an important protein.
That gave Dr. Yu an idea: Why not make a custom piece of RNA to block the effects of the extraneous DNA?... Dr. Yu’s team oversaw development of the drug, tested it in rodents, and consulted with the Food and Drug Administration. In January 2018, the agency granted permission to give the drug to Mila. She got her first dose on Jan. 31, 2018.
The drug was delivered through a spinal tap, so it could reach her brain. Within a month, Ms. Vitarello noticed a difference. Mila was having fewer seizures, and they were not lasting as long. With continued treatments, the number of seizures has diminished so much that the girl has between none and six a day, and they last less than a minute...Here's hoping that this treatment lasts in the long term for Mila. What a wonderful success for her family and for Dr. Yu's team, and here's to many more cures to come for future Milas. I cannot imagine that anyone will ever make a profit from an approach like this (and here, I may lack imagination), but if lives are improved, that's good enough for me.