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they thought hemophilia was a ‘lifelong thing.’ they may be wrong.

by:QY Precision      2019-10-01
Scientists are getting closer and closer to defeating the long-time enemy of human health: hemophillips that cannot form blood clots.
For decades, researchers have tried to develop a genetic therapy for the disease, but it is now beginning to succeed.
In recent experiments, short intravenous injections of powerful new therapies have freed patients from
At least now-
This is a situation in which they have been shrouded in shadows all their lives.
Encountered setbacks
Years of clinical trials failed and hopes were dashed.
Just last week, a biotechnology company reported that gene therapy for two of the 12 patients mostly stopped working in one trial.
But the overall trajectory of development is moving forward, and many experts expect new treatments to be approved within a few years.
No one has said it can be cured yet.
Current gene therapy
Transfer new genes to cells with viruses-
Can only be used once.
If it stops working, the patient loses benefits.
At the moment, \"We expect this to be onein-a-
Lifelong treatment . \"
Steven plumbing, director of the University of Michigan\'s hemophillips and coagulation disorders program, lead researcher for a clinical trial conducted by biotechnology company BioMarin.
Successful treatments are recent and it\'s hard to say how long they will last.
But for the few patients who have successfully passed the clinical trial, life after treatment is so different that it is a bit shocking. [
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In the United States, there are 20,000 Hepatitis A patients who lack one of the two proteins needed for blood coagulation.
This is a genetic condition in which the coagulation gene is located on the X chromosome.
Almost all people are men.
Those most affected must be injected every few days with a missing protein, factor VIII, or factor IX.
The injection can maintain the vitality of the blood dynamics, but the level of coagulation protein will drop between the injections.
Even with regular injections, people with autism also have the risk of bleeding from muscles or joints, and even from uncontrolled brain.
They must be very careful.
Once the bleeding begins, the joint may protrude when the joint space is full of blood.
The joint may be damaged when the bleeding stops.
Mark Skinner, 57, says even routine flights are risky. year-
An old lawyer in Washington, D. C. , is a former president of the World Hepatitis a federation.
\"Carry your luggage with you and you can twist the wrong way and trigger bleeding immediately,\" he said . \".
\"Or you can get knocked down by a trolley.
\"Usually people with autism are taught when they are children to avoid most sports and find occupations that don\'t require too much physical activity.
Many people moved to the city to make it easier to get treatment.
They may change jobs to receive medical insurance to cover hospital and surgical medical expenses that may reach $1 million per year, and in addition, the average amount of coagulation protein is $250,000 to $300,000 per year. (
These lenses alone cost $1 million a year. )
Despite their vigilance, most people with serious illnesses end up with permanent joint injuries due to bleeding, which often results in ankle fusion or early stage of hip or knee replacement surgery.
Most people suffer from long-term pain due to past bleeding.
There is also an additional complication for elderly patients.
Coagulation proteins used in 1980 s were contaminated with H. I. V.
And hepatitis C.
Almost all people are infected.
Now, however, researchers are seeing the beginning of a new era.
\"This is a very optimistic moment,\" said the doctor. Lindsey A.
George is a haemologist at The Children\'s Hospital in Philadelphia and a lead researcher at Spark Therapeutics, one of several companies that develop genetic therapy for hemophillips.
The goal of gene therapy is to reduce or eliminate the need for patients to inject coagulation factors and reduce the number of bleeding.
The gene to be inserted depends on whether the patient has hepatitis A caused by a mutation in the factor VIII gene, or hepatitis B, caused by a mutation in the coagulation factor IX gene.
Although the symptoms of these two diseases are the same, the most common so far is hepatitis.
Some biotech companies are now in a hurry to bring their gene therapy to market.
Spark and BioMarin, another biotech company, are starting large-scale, final treatment, and the company has similar treatment options
Clinical Trial Phase(
Pfizer is taking over the development of spark drugs. )
The preliminary results of the two companies were not perfect.
In the_hemophilia A trial in Biomarin, the average level of factor VIII in the patient\'s blood was normal or higher than normal, but in the second year, these levels fell to the median of 46%.
I don\'t know why.
Patients in Spark\'s hemophilia B trial averaged only 35% of the normal blood levels of factor IX.
But these levels have remained stable for the next two years.
The good news is that these levels are enough for blood to condense because the normal levels are more than people need.
For decades, some patients who have been treated are trying to adapt to new freedoms after a dream of healing.
John Brissette, 39, is a computer user interface designer in Hanover, Massachusetts.
He said that he has always had A in his life.
He grew up eager to be as active as other children.
But his joint is bleeding, leaving him crutches on crutches for a few days at a time, or forcing him to put his arm in a sling.
He will leave school for a week, then come back and bleed again.
The nosebleeds kept him very embarrassed.
As an adult, he had to merge his injured ankle bones.
Over the years, his elbow was bleeding too much, causing him long-term pain.
Expect more pain and damage in the years to come
Brissette began to look for clinical trials for gene therapy.
Eventually, he took part in the Spark experiment. (
The company also has an experimental hepatitis A drug. )
He received an infusion on April 19.
The blood level of his factor VIII rose from zero to 30% of the normal level and has stayed there so far.
\"I have no bruises.
I didn\'t bleed once . \"Brissette said.
He has not injected himself with coagulation factors since the operation.
But he is still trying to get rid of his life.
When he tries to work at home or run around with his children, he can\'t get rid of the fear of bleeding.
\"I have become a very cautious person . \"Brissette said.
At first, it seemed ideal for gene therapy.
The normal levels of coagulation proteins range from 50% to 150% of the average.
Gene therapy for this disease does not have to provide patients with much effective stuff.
The researchers know which genes are inserted into the liver cells of the patient.
Two genes A and B were isolated in early 1980.
But the study proved difficult. a few years ago, scientists from University College London and St. reported the first positive results.
Jude Children\'s Research Hospital
They treated 10 patients with hepatitis B and managed to raise the blood level of factor IX to 2% to 6% of the normal level.
Since then, the coagulation proteins of these patients have remained at these levels.
Then the scientists stumbled upon an unexpected wealth.
They found a man in Padova, Italy, whose genetic mutation made the number of factor IX produced by cells 12 times the usual number.
The researchers realized that they could put the mutant gene into the virus and use it to insert the mutant gene into the cells of hepatitis B patients.
The good thing is they don\'t have to use so many viruses-
The lower the dose, the less likely the immune system is to attack.
\"We reduced the dose by 4-fold,” said Dr.
Spark High is the president of Spark and a hematology.
\"Our first patient was 23. year-old nurse.
\"His factor IX level has risen to around 30% and has been there for two years,\" she said . \".
The nurse did not need to inject factor IX and did not have bleeding, she added.
But influenza A is even more daunting.
A virus used to carry a modified gene into a patient\'s cell is called a gland-like virus.
Related viruses.
They cannot carry large genes, and the factor VIII gene needed to treat Hepatitis A is huge.
After 15 years of hard work, the researchers finally found that by cutting out the parts that were not needed, they could reduce the gene to a controllable size.
Scientists and patients are no longer dazzled by treatment that only raises the level of coagulation factors to an average of 6%.
\"My thoughts have changed,\" he said . \"
Skinner of the World Hepatitis A Foundation
He added that the results now reported by the company a few years ago \"really seemed unimaginable \".
Bill Konduros, 59, lives at the owner of a machine store in Mississauga, Ontario, his brother, Jay Konduros, 54, a baker in Cambridge, Ontario, who believes that, constant vigilance and disability in life are their fate.
\"It\'s going to be a lifetime thing,\" said Jay Konduros . \"
The pair then joined Spark\'s hepatitis B gene therapy trial.
Jay Konduros recalled that the actual infusion of experimental drugs was fatal.
He walked into a hospital in Philadelphia, sat in a chair, and had a intravenous drip for half an hour. That was it.
Now the factor IX level in Jay Konduros blood is about 50%.
Bill also took part in the trial, and his level was close to 75%.
They have not needed any factor IX since their genetic therapy.
It is difficult for both to accept the fact that their lives are very different at the moment.
\"When I hit myself or strain my muscles or twist, I immediately regained my mind like hemoph,\" Bill Konduros said . \".
\"You have to be very vigilant.
Is the pain spreading?
Is it beating?
Jay fell down on his forearm one day.
Both wrists were hit by concrete and he hit the left side of the thigh as the previous bleeding was damaged.
He took a few deep breaths and told himself, \"you will. K. You will be O. K.
He is worried that disaster is expected.
He stretched out that night.
He checked himself.
Nothing seems to be damaged.
He woke up in the early morning and checked himself again nervously. He was fine.
He waited for three days, called his brother and told him: he is now a normal person with a slight fall.
\"You hear a lot of things that are described as miracles or miracles,\" Bill said . \".
\"I think I \'d say it\'s true.
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