Navigating the Challenges of ASO Treatment for Genetic Therapy

How many medicines can you think of created for just one person? The likelihood is none - which is why the world hasn’t heard of milasen yet. But its creation, and the efforts behind it, could build a pathway towards some of the greatest advances in genomic medicine, and a new initiative being trialled in Britain has a huge role to play in making this happen.

At the age of seven, Mila Makovec became the first person in the world to be treated with a medicine created just for her. A bubbly young girl from Colorado, Mila suffered from a very rare genetic disorder called Batten disease, which leads to a painful early death in children. Mila’s mother, Julia Vitarello, resolutely sought out scientists to try to discover a way to save her daughter. After relentless efforts, one doctor, Timothy Yu from Boston Children’s Hospital, imagined a possible treatment for Mila. The challenge was it involved making a completely unique treatment for Mila’s specific genetic mutation. It would be novel and very expensive - but it was her only option. Julia raised the millions of dollars required through a charity she set up in her daughter’s name, and in 2018 Mila became the one patient in the world to receive the drug milasen.

Initially, it worked, and Mila’s condition stabilised and improved. However, the treatment was given after the disease had done a great deal of damage to a small child, and Mila died when she was ten years old.

There are an estimated 7,000 rare diseases in the world, affecting more than 400 million people - and most are genetic. The majority have no effective treatment. New medicines for these conditions can’t be put through clinical trials on groups of patients because they are so rare. So, currently, such novel therapeutics can only be legally given after lengthy and costly work that is uncommercial for drug firms.

Having got so achingly close to saving her daughter, Mila’s mother is now leading efforts to make these new genetic medicines available to other children with rare diseases - and Britain is where her campaign is about to take a huge step forward.

The launch of the Rare Therapies Launch Pad is bringing together efforts from Mila’s Miracle Foundation, the UK medicine’s regulator the MHRA, Genomics England and Oxford University in an world leading attempt to build a new streamlined regulatory pathway to allow one-off drugs to be designed and approved for use in individual patients with rare diseases.

Natasha Loder, Health Editor at the Economist, tells this very personal story of how one mother’s determination to try and save her daughter could lead to a revolution in personalised medicine - one that has the potential to bring hope to millions of families.

Producer: Sandra Kanthal