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These patients had sickle cell disease. Experimental therapies could have cured her.



Scientists have long known what sickle cell disease causes and what devastating effects they have: a single mutation in a missing gene. For decades, only modest progress has been made against an inherited disease affecting mainly people of African descent.

With advances in gene therapy, this is changing rapidly – so much so that scientists are talking about a cure.

In half a dozen planned or ongoing clinical trials, researchers are testing strategies to address the problem at the genetic level. Already a handful of enrolled patients suffering from a disease that causes painful pain, strokes and early death no longer show signs of the disease.

Among them is Brandon Williams, 21, who lives with his mother Chicago. Due to his sickle cell disease, he had suffered four strokes at the age of 18 years. The damage makes it difficult for him to speak. His older sister died of the disease.

After experimental gene therapy, his symptoms have disappeared. Life has changed for the better: no more transfusions, no more pain, no more fear.

"He said," Mom, I think I want to get a job, "said his mother, Leuteresa Roberts.

In the course of these experimental treatments, it's still early, and it's likely to take at least three years until one is admitted, although the researchers hope the effects will continue, they can not be sure.

"We're on unfamiliar territory," said Dr. David A. Williams, Chief Scientific Officer of the Boston Children & # 39 ; s Hospital.

Currently the only remedy for sickle cell disease is a dangerous and expensive bone marrow transplant, a rarely used option Effective gene therapy would not be easy or inexpensive, but could change the lives of tens of thousands of people

"That would be The first genetic cure for a common genetic disease, "said Dr. Medicine at Harvard Medical School.

This would also be a turning point for a big one e community of underserved patients. Most of them have African ancestors, but also Hispanic and those with southern European, Middle Eastern or Asian background are affected.

Experts have long claimed that progress in treatment is limited, in part because sickle cell disease is concentrated in less affluent minority communities.

"After years of trying to raise philanthropic money, I can tell you it's really hard," Dr. Williams.

An estimated 100,000 people in the United States have sickle cell disease. Every year, around 300,000 babies are born with this condition worldwide, a figure that will increase to more than 400,000 by 2050.

The disease most commonly occurs in sub-Saharan Africa, where an estimated 70 percent of children are affected by it dies before adulthood.

In sickle cell disease, blood cells filled with hemoglobin are distorted into sickle shapes. The malformed cells remain in blood vessels and cause strokes, organ damage and painful episodes – so-called crises – because the muscles are suffering from oxygen. Normally, children return to normalcy between crises. Teenagers and adults, however, suffer from chronic pain.

The malformed cells do not survive long in the blood – 10 to 20 days compared to the usual 120 days. Patients may be severely anemic and susceptible to infection.

Daily life can be a challenge. Many adults with sickle cell disease are not covered by health insurance, especially in states where Medicaid was not expanded, according to Drs. John Tisdale, lead investigator at the National Institutes of Health.

Williams was among the first to receive one of the experimental gene therapies in which researchers attempted to give his immature blood cells a new and functional gene . Roberts and the family pastor watched as the treated cells dripped back into his veins.

"I was so overwhelmed," remembers Mrs. Roberts. "I cried tears of joy."

In the 1980s, when researchers began to think about gene therapy to correct genetic disorders, sickle cell disease was high on the list.

Theoretically, it seemed uncomplicated – only a tiny change in a single gene led to misery in life and early death.

Each patient had exactly the same genetic mutation. To cure the disease, all scientists had to fix only one genetic error.

But it was not so easy. Among the many problems plaguing gene therapy research, there were problems specific to sickle cell disease.

Hemoglobin genes are only active in the precursors of red blood cells derived from bone marrow stem cells, and there are only genes active for about four or five days until mature red blood cells form. Benz.

The results were remarkable for many of the pioneering patients in these studies.

Carmen Duncan, 20, of Charleston, SC, had removed her spleen at the age of 2, a complication of sickle cell disease complications. She spent much of her childhood in and out of hospitals.

"Sometimes I stayed two weeks," she said. Her arms and legs would hurt from clogged blood vessels. "A simple touch really hurt."

Monthly blood transfusions helped, she said, but they were distressing. Then she participated in the gene therapy study of Bluebird.

Today, doctors say, she has no signs of sickle cell disease anymore. She had longed to go to the military, but was banned because of her condition. Now she wants to get in touch.

Manny Hernandez, 20, was the first patient in a study at Boston Children's Hospital, where researchers are trying to resume production of fetal hemoglobin. It worked: doctors say he does not have the disease anymore.

And Mr. Williams? He ended up in the gene therapy study by Bluebird.

His mother gets the call from dr. Never forgive Thompson, who states that her son produces enough normal blood cells. For him, the sickle cell disease has disappeared.

"I was like, yes, yes, thank you, sir," said Mrs. Roberts.


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