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A drug just for Mila

Mila was not noted three years old when her parents, that something was wrong. The Small, which had previously been a whirlwind, everywhere climbed and cheerful to run around, twisted suddenly while walking on the foot funny inside. Also, she could form no complete sentences more. As Mila was four, had trouble with the. With five, she was always clumsy. "I was sure at 100 Doctors, in the USA and in Canada," says the mother, Julia Vitarello on the phone. The family lives in the vicinity of Boulder, Colorado. "Nobody knew what they had."

As the condition worsened at the age of six rapidly, came Mila to the hospital. "She was not responsive and didn't even blink when you were a medic in the eyes shone," recalls the mother. A MRI examination of the head showed: In the brain of Mila tissue to break down. After a few more Tests, the devastating diagnosis came Batten: "disease". This is a very rare genetic disease that causes the nerve cells in the brain die off. "The Doctors told us that we should enjoy the remaining time with our child," says Vitarello, there is no help. The life expectancy for affected children is 8 to 12 years.

But Julia Vitarello sought help. Your Facebook call las happens to be the wife of the neuro-geneticist Timothy Yu from the Boston Children's Hospital. "Dr. Yu called us a few weeks later," says Vitarello. He wanted to search for the cause of the disease. First hope for the parents, but not an easy task for the researchers, because, in the case of Batten disease, both of the father and the mother inherited copies of a gene are changed pathologically. The hospital doctors had discovered in the case of Mila, but only a Mutation.

Only a year to go to therapy

Vitarello the exact cause of the disease wanted to know also because Mila has a little brother. Could he get a serious illness? "He was two and a half," says the mother.

As of the neuro-geneticist Timothy Yu, together with a large team of researchers, the cause of Milas illness cleared and within a year, a therapy specifically developed for you, have described the researchers recently in the "New England Journal of Medicine". The Team has thus laid the Foundation stone for a personalized treatment of rare genetic defects – first, those affecting the brain.

Yu was with his Team, according to an analysis of the entire genome of Mila the second genetic defect. The mistake in the DNA had been described as never before in the Batten-disease, he reminded the researchers of a different genetic disease: spinal muscular atrophy (SMA). Against this disease, in its severest Form, for 90 percent of affected neonates fatal, there was recently an innovative therapy in the United States. The active ingredient is Nusinersen, and since 2017 as a "Spinraza" also in Switzerland.

"We are paving the way for personalized medicine also for other patients with very rare genetic syndromes."Julia Vitarello, Milas mother

have worked out The principle behind molecular biologists and geneticists quite elegant and out. Make use of short molecules similar to DNA, called Antisense oligonucleotides (ASO). These engage in the process that translates a Gene into a Protein. This process is disrupted in individuals with SMA, similar as in the case of Mila and the result is in the case of the sick equally devastating: you can't restore an important Protein. In SMA patients, it is a Protein with the name of SMN, the nerve cells which stimulate the muscles. Mila sufficient amount of a Protein CLN7 is missing, however. It is for the disposal of waste in the cells required.

The team of researchers could be based on already approved active substance Nusinersen. "We used a very similar chemical constituents to Milas medicine, as the drug developer in Nusinersen," says David Fischer of the Charles River. The US-based company carried out the safety tests with the ASO on animals.

Three million dollars in costs

Milas mother is the entire Team of Timothy Yu infinitely grateful. The researchers have added to the scientific Try to contact the drug manufacturers, the safety tests organized, and finally, the approval of the US food and drug administration FDA requested. The cost for such experimental therapy paid for, as well as in Switzerland, also in the United States no health insurance. Vitarello therefore established the Foundation of Mila's Miracle Foundation and collected three million dollars. Time was of the essence. Just before Milas seventh birthday, her condition worsened again. She could formulate no words, hardly even swallow and had an intense epileptic seizures, sometimes 15 to 30 a day, each one to three minutes in length.

in the Meantime, laboratory tests have shown with Milas cells that produced Antisense helped oligonucleotides to form the Protein CLN7, and that the cells were almost healthy. Then the security tests are not demonstrated with rodents that the substance was toxic. Therefore, the Doctors got the green light from the FDA, and the Milas family moved to Boston. At the end of January 2018, the girls received General anesthesia before the first Infusion of Antisense oligonucleotides into the cerebrospinal fluid EMSS spinal cord injected, which leads to the brain. Milas drug is Milasen. "The first four months, Mila got the Infusion, every two weeks," says the mother. "We were three days in the hospital."

especially the first half of the year was a success, says Vitarello. Mila could only laugh her head back to lift, to swallow, and she responded to her fellow human beings. The number of epileptic seizures decreased sharply.

"We have seen very early on that Milasen has a positive effect," says David Fischer of the company Charles River. How big the effect is, with describes Vitarello, in the meantime: "There are good weeks and bad." On the one hand, Mila is currently still better off than other children with Batten disease. You can't go through your mother even a little, what other Affected people is in the age. On the other hand, Mila is not cured. Your brain volume has continued to shrink. "The course of the disease is so fast and the effects are often not reversible," says Fischer. Therefore, future patients would need to receive as early as possible at the beginning of the Batten disease treatment, the hope.

criticism of the parents

"Some people have criticized us that we will leave to Mila such an experimental therapy have to develop," says Vitarello. The substances are poorly tested, and this is unethical. "I don't think it's unethical to help my daughter." Vitarello is your Foundation for other Affected. "We are paving the way for personalized medicine for other patients with very rare genetic defects," she says.

Mila has a birthday today. You is nine. "Yes, we are going to celebrate," says the mother. Also, the brother will be there. The genetic Tests have revealed that Julia Vitarello has one of the disease genes are passed on to Mila – but not to your son. He is healthy.

Created: 04.11.2019, 17:43 PM

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