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Eight-year-old girl gets personalized drug for rare disease after parents raise…

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Created to treat a disease in just one person and named after the little girl for whom it was developed, a drug believed to be the first personalized drug is here – and is raising questions for scientists about the ethics and effectiveness of personalized medicine. .

Eight-year-old Mila is the world's only beneficiary of the drug "milasen" – an innovative treatment designed specifically to combat her rare neurodegenerative disease and paid for by a massive collective funding effort that her parents started.

AN paper published wednesday in the New England Journal of Medicine called the drug "an example of individualized genomic medicine" and described the journey researchers have made to develop milasen.

According to the newspaper, Mila's parents were worried when she was three and noticed her right foot starting to turn inward. Over the years, her condition became more pronounced: she needed to pull the books much closer to her face when she was four, and at five she showed signs of regressing in her language and social skills, and she was also becoming clumsier. .

The tipping point came when Mila was six years old. She was hospitalized after "the rapid development of vision loss, frequent falls, dysarthria and dysphagia," the study said.

Numerous tests later, a diagnosis was reached: Mila had Batten's disease.

Batten's disease is a rare recessive condition that affects vision and the central nervous system. It causes seizures and cognitive impairment and eventually leads to early death in children and young adults.

No cure has been discovered yet.

"Our hearts have stopped," says a post from Mila's parents on Mila's Miracle Foundation Website. "Our bodies went limp."

The family was devastated by the diagnosis but refused to give up. They decided to start raising money to fund research on treatments for Mila. They started a GoFundMe and then a website dedicated to their daughter.

AN Current GoFundMe The link to the site shows that fundraising is just under $ 1 million, but a New York Times articleOver the years since the diagnosis of Mila's disease, the family has raised about $ 3 million for research efforts.

The danger with Batten's disease is that the problem is in the patient's own DNA. In Mila's DNA, there is a misplaced piece of genetic code, making it impossible to correctly manufacture an important protein. Incomplete protein cannot be properly decomposed in cell lysosomes, leading to an accumulation of material that eventually kills the cell.

Milasen, the drug designed to combat this by a team of researchers at Boston Children's Hospital, works by putting together a new genetic code that makes the protein-building pattern work again.

Mila's condition worsened over the year it took to develop the drug. When she was seven, she had so many swallowing problems that she had to insert a feeding tube. She had lost her ability to make discernible words and had 15 to 30 seizures a day, the study said.

Batten's disease has several variants – making the need for individualized research and treatment even more prevalent – and the Mila variant is called CLN7. The research paper said that in the largest published case study of CLN7 patients, seven patients died when they were just over 11 years old.

Given how quickly Mila's disease seemed to progress, the researchers sought permission from the Food and Drug Association (FDA) to begin testing the drug on mice to ensure there were no harmful side effects.

When they were sure it was safe, they gave Mila their first dose through a lumbar puncture.

That was in 2018. Since then, according to research work, Mila is now going from zero to 20 crises a day, and their duration has decreased to less than a minute.

On a blog post written by Mila's mother This week she reported that many of the symptoms of Mila's disease “stabilized, even improved,” describing how she recovered most of her motor skills, such as the ability to step with some help and feel objects on her own. .

However, she still has lasting neurological damage. And whether or not it will survive the disease is still unknown.

Rare diseases as a whole affect about 30 million people in the US alone, according to research work. There are over 7,000 distinct conditions that qualify as "rare", although the number changes depending on how you define it.

THE published editorial article In the New England Journal of Medicine, to follow up on milasen research, he warned that the field of personalized medicine introduced a number of problems and questions.

"What kind of evidence is needed before exposing a human being to a new drug?" The piece asked. "How does the urgency of the patient's situation or the number of people who could finally be treated affect the decision-making process?"

How doctors could accurately measure the effectiveness of a person-directed drug was also a new aspect that had to be tackled, according to the editorial. What if a perceived improvement in a patient is more placebo than anything else?

According to CTV science and technology expert Dan Riskin, "you need a large sample size to understand these things about drugs." This is not possible with individualized treatments, he said.

When developing a personalized medicine is so expensive, these issues are more important than ever.

"The economic side is obviously the first thing that comes to mind because it seems totally unfair to the surface," said Riskin. “What this means is that the more resources you have, the better your child will be. But most people do not have these means. And so if this is the way forward for medicine, it raises a big question mark about what happens to the 99%. "

While crowdfunding may be a pathway to specialized medical treatment, not all cases will be able to draw attention to the way Mila did and will get traction.

From a purely scientific point of view, the implications of milasen are exciting, Riskin acknowledged.

“This is a logical extension of where science is now. If we can figure out what your DNA says individually, we can figure out (individually) what your DNA is doing wrong and we can fix what is wrong individually. "

But Riskin does not think this kind of drug development is likely to arrive in Canada anytime soon because of our public health care system.

"This goes back to the debate that has been going on in Canada for decades about … if any Canadian (a type of treatment) is allowed, every Canadian should have it."

The milasen research paper acknowledged that while Mila saw improvements, the drug did not solve everything: tests performed seven months after the first treatment showed that she was still suffering a continuous loss of brain volume.

Your family is still hopeful. Not just for Mila, but for the idea that treatments like milasen could "pave the way for many more children like Mila in hundreds of rare diseases."

Fundraising may have started as just for her daughter, but now the website – Mila's Miracle Foundation – provides funding for scientists studying Batten disease and developing other gene therapies to close this economic gap. to access personalized medications.

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