Doctors develop cure & # 39; for babies with & # 39; boy bubble & # 39;



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However, due to his illness, going outdoors and crowds of people would put him at serious risk of mortal infections, and so Hawkins accepted this as the reality of Ja? Ceon – so far.

Kristin Simpson, as any mother would do, wanted her young son, Omarion Jordan, to become a healthy boy who could venture out into the open and not risk becoming seriously ill.

Now, she says, he can.

Ja & Ceo and Omarion were both diagnosed as children with a rare genetic disorder called severe combined immunodeficiency linked to the X chromosome or SCID-X1.
Ja & Ceon Golden being treated at UCSF last year
Severe combined immunodeficiency or SCID refers to a group of rare diseases caused by mutations in genes that influence the development and function of important immune system cells. Babies born with SCID may appear healthy but are highly susceptible to serious infections – so much so that a common cold could kill them.

Because of Hollywood's fascination with disorder, many people may think of SCID as the disease featured in John Travolta's 1976 film "The Boy in the Plastic Bubble," or the 2017 film "Everything, Everything," starring Amandla Stenberg.

However, some common misconceptions about the condition were portrayed on the big screen, and living in a plastic bubble or locked inside your home – as in those movies – has never been a standard treatment for the condition, according to the Foundation for Immune Deficiency. .
A bone marrow transplant is usually used to treat SCID early in life before an infection can occur, and transplants in the first three months of life have the highest success rate. Paired sibling transplants are preferred, but if there is none, an unrelated parent or donor may intervene. Although transplants save lives, they often only partially restore a patient's immunity.

Now, it turns out there is another way to treat the disease – and doctors call this new therapy "healing."

A team led by researchers at St. Jude Children's Research Hospital in Memphis has developed an experimental gene therapy that involves collecting stem cells from the bone marrow of a child with SCID-X1 by inserting the normal gene that is missing in these patients in these cells and infusing them back into the child so that the cells repopulate and restore the immune system.

Tod Lubitch (played by John Travolta) in the 1976 film

It's complicated, but it raises eyebrows in the medical field.

There are several types of SCIDs, based on which genetic defect is involved; mutations in the IL2RG gene on the X chromosome cause SCID linked to X or SCID-X1, which mainly affects male boys. The condition probably affects at least 1 in 50,000 to 100,000 newborns, according to the US National Library of Medicine.
If left untreated, a child with SCID-X1 will rarely live beyond their second birthday, doctors say. In the United States, all newborns are screened for SCID.
"From a physiological point of view and a quality of life for these patients, this is a cure." The question will be, will it be a lasting cure? Will it last 10, 20, 50 years for these children? only time will tell, "said Dr. James Downing, president and CEO of St. Jude Children's Research Hospital, on Tuesday.

"This is the first time we have seen a complete reconstitution of the immune system, which has provided the ability for these children to escape isolation," he said. "So we're comfortable, I think, right now stating that this is a cure. Only time will tell it will be a lasting and lasting cure."

Newly developed gene therapy, performed in combination with a chemotherapy called busulfan, has been described in a study published in the New England Journal of Medicine on Wednesday.

Both Jaon and Omarion participated in a clinical trial to test the therapy, and were successful in treating SCID-X1 in both.

"Children are cured because, for the first time, we have been able to restore all three types of cells that make up the entire immune system," said Dr. Ewelina Mamcarz, the study's first author and researcher at St. Jude. .

The treatment restored healthy functioning in several groups of immune cells, including T cells, B cells and NK cells.

"We will continue to follow these patients, but the results are only that these patients have complete immune restoration without immediate side effects," said Mamcarz.

"Because this therapy is still in the early stages of development, it is too early to estimate the total cost, but we want it to be accessible to any child who needs it," she said. "Most patients require only an infusion, and since we were able to fully restore the immune system, they did not need any additional therapy, such as in the transplant."

He had never left the hospital before –

When Ja & Ceo Golden was born in New Mexico in 2016, he never had the chance to go home from the hospital. His neonatal screening tests showed that he had SCID-X1. When the doctors told her aunt, Dannie Hawkins, about the test results, she did not know what to think.

Ja & Ceon, at 3 months of age, with doctors at the University of California, San Francisco.

"I was like," Well, what's that? "And their response to me was," Well, have you seen the movie "The Boy in the Bubble?" And I was like, "Yeah." they said "well, that's what he has". At that moment, all sorts of things were going through my head, "Hawkins told CNN exclusively.

Hawkins, the guardian of Ja? Ceon, learned more about the disorder and how to care for Ja? Ceon while he remained in the hospital, including constantly washing his hands so as not to expose him to germs, and to heat the water before his baths, so the water was sterile.

Ja and Ceon and their aunt, Dannie Hawkins.

The doctors then told Hawkins that she could travel to San Francisco to receive treatment for Ja & Ceo, and she was briefed on the study for the new gene therapy.

In 2017, while in San Francisco, Ja & Ceo was treated for his illness. As soon as Hawkins heard that the treatment had been successful, she took Ja? Ceon out for the first time.

"That was really cool, watching him smile and look, because all he could do was see the cars out the window and things like that, because I would put him in the hospital window so he could see people walking and cars passing, " she said. "Just to watch him look at the cars and just smile, it was a blessing."

Jeon has his hair braided.

In the days that followed, Hawkins was still nervous about whether his nephew's immune system was completely restored.

"I still had this fear, and if he gets sick?" You know, because he had never left the hospital before, "she said.

So "we went to a game of the Giants, and their immune system was able to handle it, with all the people that were there, and that's when I realized it worked," she said.

Ja & # 39; Ceon in the skatepark, now as a child.

In the game, Hawkins led Ja? Ceon, who is a baseball fan, to meet Barry Bonds, a former San Francisco Giants ace. In addition to Hawkins and a medical professional, he was the first person to hold Ja & Ceo.

"He never knew the condition of Ja? Ceon because it was not something I talked to him, but he managed to hold it and we took photos," Hawkins said. "This was the third day out of the hospital."

"I was really praying for a miracle, and I think that's what happened"

Omarion as baby with SCID-X1.

As for Omarion Jordan, he is now a cookie-loving baby, cheerful and healthy, but it has not always been so.

When Omarion was born nearly a year ago in Indiana, the state did not test newborns for SCID, and his family was unaware of his condition. As a child, he often faced health problems, such as rashes or scaly patches on the skin, but no one knew why.

"They were guessing what was wrong, like they were telling me he had a crib, he had eczema, he had allergy to milk," said his mother, Kristin Simpson.

"I just felt that no one was taking me seriously and that it was much more serious than anyone was letting it show," she said.

Omarion with an infection.

One day, Simpson had enough. She took her son to see his primary care pediatrician, who then sent Omarion to a nearby hospital.

At the hospital, "they said he had pneumonia, had a viral infection, had a fever, was having difficulty breathing and continued to do more and more exams," Simpson said. "So I remember them telling me he had a SCID related to X."

Omarion was about 3 months old and Simpson had never heard of the disturbance.

Omarion and his mother, Kristin Simpson.

Once Omarion was diagnosed, Simpson and his doctors made efforts not to expose him to any germs, and he was barred from going outdoors for months. Then he was enrolled in the study for the new gene therapy.

After that, Simpson was informed that his son had been treated successfully.

"Going into it, I honestly expected the worst," she said.

"I was really praying for a miracle, and I think that's what happened. I do not think it's anything less than a miracle," she said. "As soon as we found out he was healed, he was really taking a nap, and we woke him up to take him outside, and then we stayed outside all day until he fell asleep."

What Next for Gene Therapy

Ja & Ceo and Omarion were two of the eight infantile patients who were involved in the new study. Patients, mean age 3 months and half and newly diagnosed with SCID-X1, were treated with gene therapy.

The therapy involved the collection of bone marrow stem cells and the use of a virus as vector to insert a healthy copy of the IL2RG gene into the patient's cells before infusing those cells back into their bodies. "The process takes about 10 days," she said.

"Before gene-corrected blood stem cells were infused into patients, infants were given two days of low-dose busulfan, which was a chemotherapeutic agent most commonly used in bone marrow transplantation, to free bone marrow space for stem cells. donors ". The result was truly remarkable for our patients, "said Mamcarz.

The vector used in the therapy was a copy of the human immunodeficiency virus, or HIV, but patients "can not become infected with HIV," said Dr. Morton Cowan, a pediatrician at the University of California, San Francisco, USA. was the author of the study. "It originated as HIV, but it really is not HIV anymore when it is inserted," he said. The virus was designed so that its active parts were removed, making it safe to use.
"This virus is able to effectively provide healthy copy of the gene to stem cells in a way that was not possible before. We believe that this type of virus is safer and more effective for gene therapy," said Dr. Stephen Gottschalk , chair of the Department of Bone Marrow Transplantation and Cell Therapy at St. Jude Children's Research Hospital and an author of the study, said Tuesday.

Such gene therapies may also come with cancer risk, as delivering the IL2RG gene into a patient's cells could affect adjacent genes, but Gottschalk said that the HIV vector was modified to include isolators that block the activation of surrounding genes.

"The goal is to prevent gene therapy from unintentionally causing leukemia," he said.

All patients survived the treatment and were well on average for 16.4 months after treatment, according to the study, but further research is needed to determine if the effects will continue as patients age.

Researchers are investigating how this gene therapy could be used to treat patients of other types of disease.

For example, "the same vector that was manufactured here at St. Jude is currently being used at the National Institutes of Health to treat older children who have had an unsuccessful bone marrow transplant," Mamcarz said.

"We are exploring other immunodeficiencies but this vector can also potentially be used to treat sickle cell disease, which is a life-threatening blood disease that is very common all over the world," she said.

Nadia Kounang from CNN contributed to this story.

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