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pale disease girl given custom-made drug

  Patient and Physician

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Boston Children's Hospital

A girl with a deadly brain disorder has been given a unique drug that works only for her and in a fraction of the normal time from scratch was invented.

Mila Makovec, now eight years old, has been diagnosed with the deadly and untreatable Batten disease.

In less than a year, doctors at the Boston Children's Hospital in the US developed the tailor-made drug to correct certain flaws in Mila's DNA.

She has far fewer seizures now, though she is not healed.


Black-foot disease is incredibly rare, is getting worse and is always deadly.

Mila was three years old when her right foot began to turn inwards. A year later, she had to hold books close to her face, as her eyesight dwindled. At five, she occasionally fell and her walk became unusual.

At six Mila was blind, barely able to talk and had seizures.

The disease can be caused by a number of genetic mutations that prevent cells from degrading and recycling waste.

Instead, garbage builds up and it can lead to the death of brain cells.

The Path to Therapy

Mila's family was diagnosed with Batten disease and they knew it was genetic.

They launched a campaign ̵

1; Mila's Wonder Foundation – hoping to cure the incurable.

"I sat down for dinner one night and my wife told me a friend of hers shared a Facebook post from a family in Colorado looking for help," Dr. Timothy Yu opposite the BBC.

He met Mila for the first time in January 2017 and what followed was incredibly fast and unprecedented.

The Boston team sequenced the entire genome – a detailed survey – of the DNA of Mila, their genetic code, and uncovered a unique mutation that caused their disease.

After the researchers had discovered the mistake, they thought that this might be the case possible to treat it.

They designed a drug, tested it on Mila's cells and animals in the lab, and received approval for use by the US Food and Drug Administration.

Mila was treated with the drug called Milasen – on January 31, 2018.

Typically, medicines take about a decade and a half to get out of the lab, undergo clinical trials, and reach patients.

The US team arrived there in a year.

"When we stopped and looked back, we were very proud and surprised, sometimes it's helpful to be naive, and to know that we had a child who went back to work motivated everyone to move on incredibly fast," said Dr. Yu

He added, "We are not aware of any other case where another drug was tailored that way."

Boston Children's Hospital

What does that mean for Mila?

The drug can not reverse all damage that has been done.

"I would say we were really excited in the first year, it seemed like the disease was very little advanced," Dr. Yu the BBC.

This is a disease in which the decline is usually unstoppable.

The incidence of Milas seizures dropped from 15 to 30 a day (usually about two minutes) to between zero and 20 a day and lasted for only a few seconds.

Her family reported that she stood taller and swallowed better.

In her second year of treatment, there are signs that the disease is progressing again and Mila continues to be closely monitored.

"We believe she is progressing more slowly than usual and hopes that she will continue to stabilize." Yu said.

He believes that if it is possible in future cases to intervene earlier – when a child is three or four years old – "that could really make a big difference".

How does the drug work?

The approach used is incredibly clever and requires a thorough understanding of what went wrong.

A genetic construct for building a protein was defective in Milas DNA and the resulting ineffective protein caused Batten disease.

To get a protein from the DNA, there is a phase in the middle – a messenger (mRNA) is created that directs the instructions from DNA in the nucleus to the site where proteins are made.

However, there was a problem creating the messenger.

Not all the genetic code of a section of DNA is copied into the mRNA – parts are cut out in a process called splicing.

But in Mila's case, splicing went awry, and a false messenger substance was made, and the result was a flawed protein.

The team developed a drug that clings to the forming mRNA and prevents it from being cut incorrectly.

The same technology – antisense oligonucleotide therapy – offers the first hope to treat Hungtinton's devastating disease.

  • Huntingtons breakthrough could stop the disease.

The details were published in the New England Journal of Medicine.

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Boston Children's Hospital


Mila injected the drug into her spinal fluid

How much did all this cost?

How much this highly personalized therapy will cost will be one of the main obstacles for more people who benefit from it.

The research team will not say how much they spent on drug development

Yu said, "We would not have made it if we had not seen any way to make it accessible."

"The idea of ​​millions of dollars in medication for millionaires is not what we do. "

Could this be a new approach to medicine?


There are more than 7,000 rare diseases that are caused by genetic abnormalities and are often untreated.

Not all rare diseases – or even all patients with Batten's disease – could be treated in the same way as Mila.

However, it is hoped that truly personalized medicine, based on a detailed genetic understanding of the causes of the disease, could lead to this type of precision treatment

Dr Janet Woodcock of the Food and Drug Administration The US Food and Drug Administration (FDA) said that individualized medicines called N-of-One, because they are only used by one person, have new problems

She said, "In these & nbsp; What kind of evidence is required in certain situations to expose a person to a new drug?

"Even with rapidly progressing, fatal diseases that cause serious complications or death, this is unacceptable, what is the minimum required level of safety?"

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