A Girl Diagnosed with Batten Disease got Treated with a Drug Developed Specifically for Her

According to a story from Technology Review, the story of Mila Makovec shows the potential impact that personalized medicine could have on patients while also revealing some of its limitations. The girl was six years old when she was first diagnosed with Batten disease, a rare and severe genetic disorder. She began to decline rapidly, losing her ability to walk and see as well as most of her speaking ability. Mila would have continued to decline, but a team of scientists developed a personalized treatment that has been able to help.

About Batten Disease

Batten disease is a nervous system disorder that tends to appear between the ages of five and ten years. This neurodegenerative disease is caused by mutations which affect the CLN3 gene. Girls tend to display symptoms later than boys, but their disease tends to progress more rapidly. Diagnosis is often difficult. Symptoms include seizures, vision problems, repetitive speech, learning regression or delays, scoliosis, decreased muscle and body fat, changes to personality and behavior, poor coordination, and speech loss. Symptoms generally progress over time. There is only one drug for Batten disease that can slow progression, but it is only effective in certain cases. Most treatment is supportive, and the disease is ultimately lethal. There is a dire need for more effective therapies to improve survival times and outcomes for patients with Batten disease. To learn more about Batten disease, click here.

Developing a Personalized Therapy

In an eight month period, doctors were able to identify the specific genetic origin of her disorder and develop a therapy that could address the mutation. Mila then began to receive the drug via a spinal injection. The therapy has been named milasen in her honor. After twenty months of treatment, Dr. Timothy Yu and Mila’s mom Julia Vitarello both say that they drug, while far from a cure, has had a meaningful impact. The drug has helped reduce her seizures and has improved her ability to eat pureed foods without a feeding tube.

The effort involved the work of dozens of experts. However, the drug also costs millions to develop and it isn’t really clear how these individualized therapies would be paid for, as they aren’t covered by insurance and drug companies aren’t focusing on them. There also isn’t a clear regulatory framework from the FDA. Mila’s treatment is being covered by funds from the Mila’s Miracle Foundation, which Julia started.

The process offers a potential framework for how personalized medicines could be deployed in the future. However, many questions remain and the treatment hasn’t entirely halted the progression of the disease; some of Mila’s symptoms have improved, other have remained static, and other have gotten worse. It is clear that individualized therapies have promise, particularly when no other drugs are available, but there are still questions that need to be answered by future research.


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