Drug tailor-made for 8-yr-old shows future of medicine

A new drug, created to treat just one patient, has pushed the bounds of personalised medicine and has raised unexplored regulatory and ethical questions, scientists reported.

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 Colorado.

Mila, 8, has a rapidly progressing neurological disorder that is fatal. Her symptoms started at age 3. In 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.

Vitarello learned in December 2016 that Mila had Batten’s disease. But the girl’s case was puzzling. 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.

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 Yu an idea: Why not make a custom piece of RNA to block the effects of the extraneous DNA?

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 January 31.

The drug was delivered through a spinal tap, so it could reach her brain. Within a month, Vitarello noticed a difference. Mila was having fewer seizures. With continued treatments, the number of seizures has diminished so much that the girl has between zero and six a day.

Mila rarely needs the feeding tube now, and is able once again to eat puréed foods. She cannot stand unassisted, but when she is held upright, her neck and back are straight, no longer slumped.

Milasen is believed to be the first drug developed for a single patient. But the path forward is not clear, Yu and his colleagues acknowledged.

Source: https://timesofindia.indiatimes.com/home/science/drug-tailor-made-for-8-yr-old-shows-future-of-medicine/articleshow/71534868.cms