Milasen the Miracle Drug: A Breakthrough in Personalized Medicine

Mila Makovec was just like any other smiling, giggling little girl for the first few years of her life until she started stuttering, losing her sight, and struggling with balance at three years old. At the age of 7, she began suffering from multiple seizures a day. Finally, Dr. Austin Larson, a geneticist at Children's Colorado, diagnosed Mila with an extremely rare form of Batten disease. Batten disease is a fatal genetic condition that causes a buildup of lipopigments in the brain, central nervous system, and retina. There was no treatment, until now.

Milasen is a one-of-a-kind drug, literally. It was engineered to treat Mila and Mila only. It was designed using a 22-letter genome sequence that exactly matches the sequence in Mila's cells that is broken. Officially, Milasen is a splice-modulating antisense oligonucleotide drug. Essentially, it functions as a genetic "Band-Aid" that attaches itself to the broken gene segments in Mila's cells. It will not cure Mila since it cannot replace the brain cells that have died, but the hope is that it slows the damage being done to her brain to ease her symptoms and give her more time.

Approval of Milasen was a very different process than most drugs undergoing clinical trials, since there was only one person in the world on which it could be tested. To get approval for the "N-of-1" study, the doctors first tested the drug on Mila's skin cells. The process was rushed by the FDA in order to be able to give Mila her first injection. When asked about the potential risks of the treatment, Mila's mother said simply that it was either try this treatment and hopefully ease her daughter's symptoms and give her more time, or guarantee her a slow, painful death. Obviously, it is a case full of ethical questions and unknown effects. How do we protect the integrity of the scientific process when it comes to treatment for a single individual? If this process is successful and can be used to treat other individuals, how do we ensure that the treatment is accessible to all, and not limited to those with resources? These are some of the important questions when evaluating the potential of personalized medicine such as Milasen.

Brown, J. (2019, November 21). This miracle drug was designed and manufactured for just one person - a 9-year-old Boulder girl. Retrieved from https://coloradosun.com/2019/11/21/mila-makovec-specialized-drug/.

Kim, Jinkuk; Hu, Chunguang; Moufawad El Achkar, Christelle; Black, Lauren E.; Douville, Julie; Larson, Austin; Pendergast, Mary K.; Goldkind, Sara F.; Lee, Eunjung A.; Kuniholm, Ashley; Soucy, Aubrie; Vaze, Jai; Belur, Nandkishore R.; Fredriksen, Kristina; Stojkovska, Iva; Tsytsykova, Alla; Armant, Myriam; Didonato, Renata L.; Choi, Jaejoon; Cornelissen, Laura; Pereira, Luis M.; Augustine, Erika F.; Genetti, Casie A.; Dies, Kira; Barton, Brenda; Williams, Lucinda; Goodlett, Benjamin D.; Riley, Bobbie L.; Pasternak, Amy; et al. (2019). "Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease". New England Journal of Medicine. 381 (17): 1644–1652. doi:10.1056/NEJMoa1813279. PMID 31597037.