Mila has an extremely rare gene mutation... and a drug made just for her

 

When time isn’t on your side: Mila’s story

Mila was once like any happy, healthy child. But at age 3, she started to falter. At 6, she was diagnosed with Batten disease, a rare and fatal genetic disorder. She lost her sight, her language and her ability to walk independently. No one had an answer — until a plea on Facebook led her parents to Dr. Timothy Yu in Boston Children’s Hospital’s Division of Genetics and Genomics.

“We’re going to work on this,” he told them. There was little time to lose.

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A new frontier: Inside a custom drug

Dr. Yu and his team of scientists pulled off something unprecedented, something seemingly impossible. In the space of 10 months, they pinpointed Mila’s rare mutation, designed a drug to bypass it, engaged industry partners and FDA regulators, and launched a treatment trial — just for Mila.

Early encouraging results are reported in The New England Journal of Medicine. They could open a new path, showing it’s possible to create personalized genetic therapies for children with rare conditions — and to do so quickly.

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Dr. Yu batten disease

What is milasen?

Milasen is a one-of-a-kind drug created to treat Mila’s rare genetic mutation — a mutation she inherited from her mother that disrupts a gene called CLN7.

Known as an antisense oligonucleotide, milasen is a custom piece of genetic code designed to mask the effects Mila’s mutation, so her cell can make a normal CLN7 protein.

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Building on our extraordinary leadership in pediatric science at Boston Children’s, we translate our findings — and those of others — to fundamentally change how disease is treated and cured.

David A. Williams, MD
Senior Vice President and Chief Scientific Officer