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Doctors develop "cure" for babies with "bubble boy" disease

But because of his illness, walking and the crowds outside would lead to a serious risk of deadly infections, and Hawkins accepted this as a yes, Ceon's reality – until now.

Kristin Simpson, Like Every Mother I wish her son Omarion Jordan would develop into a healthy boy who could venture out and not run the risk of getting seriously ill.

Well, she says, he can.

Yes & # 39; Ceon and Omarion were both diagnosed as infants with a rare genetic disorder termed X-linked, severe combined immunodeficiency or SCID-X1.
  Yes, Ceon Golden treated at UCSF last year
Severe combined immunodeficiency or SCID refers to a group of rare diseases caused by mutations in genes that cause cancer Development and function of important immune cells influence cells. Infants born with SCID appear to be healthy, but are very susceptible to serious infections – so much so that a cold could kill them.

Due to Hollywood's fascination with the disease, many people think that SCID is the disease that occurs in the US 1976 John Travolta movie "The Boy in the Plastic Bubble" or the 2017 movie "Everything, Everything" starring Amandla Stenberg.

However, some common misconceptions about the condition on the big screen have been presented and living in a plastic bubble or locked in your house – as in these films – was never a standard treatment for the condition, according to the Immune Deficiency Foundation.
A bone marrow transplant is usually used to treat SCID at an early stage before infection can happen, and grafts have the highest success rate in the first three months of life. Transplants from matched siblings are preferred, but if there are none, a parent or unrelated donor may enter. Although grafts are life-saving, they often only partially restore a patient's immunity.

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

A team led by researchers from the St. Jude Children's Research Hospital in Memphis developed an experimental gene therapy in which bone marrow stem cells are obtained from a bone marrow child using SCID-X1, which adds the normal gene to these Patients are absent, enter these cells and then infuse it back into the child so that the cells repopulate and restore the immune system.

  Death Lubitch (played by John Travolta) in The 1976 Film

It's complicated but in the medical field eyebrows are bred.

There are several types of SCID based on which gene defect is involved; Mutations in the IL2RG gene on the X chromosome cause X-linked SCID or SCID-X1, which primarily affects infants. According to the US National Library of Medicine, the disease is likely to affect at least 1 in 50,000 to 100,000 newborns.
If untreated, a child with SCID-X1 would rarely live beyond its second birthday, doctors say. In the United States, all newborns are screened for SCID.
"From a physiological point of view and from a 'quality of life' for these patients, this is a cure, the question will be whether it will be a permanent cure" Will it take 10, 20, 50 years for these children? And 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've had a full reconstitution of the He said: "We feel well, I think, at this point, that this is a cure. Only time will tell, this will be a permanent lifelong cure. "

The newly developed gene therapy that was performed in combination with chemotherapy Busulfan was described in a study published Wednesday in the New England Journal of Medicine.

Both Ja & # 39; Ceon and Omarion participated in a clinical trial to test the therapy and proved successful in treating SCID-X1 in both cases.

"The children are cured because we It was the first time that all three types of cells that make up the whole immune system could recover, "said Dr. Ewelina Mamcarz, lead author of the study and researcher at the St. Jude Institute, on Tuesday.

Treatment provided the most healthy Function in various 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 a complete recovery of the immune system without immediate side effects, "said Mamcarz.

"As this therapy is still in the early stages of development, it is still too early to estimate the total cost, but we want it to be accessible to every child who needs it," she said. "Most patients only need one infusion, and because we were able to fully restore their immune system, no additional therapies were needed, such as a transplant."

"He has never been to the hospital before"

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

  Yes, Ceon, aged 3 months, with doctors at the University of California at San Franciso. [19659029] Yes, Ceon, at the age of 3 months, with doctors at the University of California at San Franciso.

"I thought so:" Well, what is that? "And her answer to me was," Well, have you ever seen the movie "The Boy in the Bubble"? And I was like "Yes," and they said, "Well, he did." At that moment, all sorts of things went through my head, "Hawkins said exclusively to CNN.

Hawkins, the guardian of Ja & # 39; Ceon learned more about the condition and how to care for Ja & # 39; Ceon while staying at the hospital, including washing his hands constantly to keep from sprouting and warming the water in front of the baths the water was sterile.

  Yes, Ceon and his aunt Dannie Hawkins.

She was able to travel to San Francisco to Received a treatment for Ja & # 39; Ceon, and she was informed about the study for the new gene therapy.

In 2017, Ja & # 39; Ceon was treated in San Francisco for his illness.When Hawkins heard that treatment was successful, she brought Ja & Ceon out for the first time.

"The It was nice to see him smiling and looking because he could only see the cars outside, windows and the like, because I pushed him to the hospital window so he could see people running and passing cars, "she said. "Just to see how he looks at the cars and just smiles, it was a blessing."

  Je Ceon has braided his hair.

In the following days, Hawkins was still nervous as to whether her nephew's immune system was completely restored.

"I still had this fear of the subject:" What if he gets sick? "You know, because he's never been out of the hospital before," she said.

Then we went to a Giants game and his immune system was able to cope with all the people living there. and then I realized that it worked, "she said. Jaon Ceon "in the skate park, now as a toddler." Data-src-mini = "// cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy-cure-study-small-169.jpg" data-src-xsmall = "// cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy-cure-study-medium-plus-169.jpg" data-src-small = "http: //cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy-cure-study-large-169.jpg "data-src-medium =" // cdn.cnn.com/cnnnext/dam /assets/190417105825-02-bubble-boy-cure-study-exlarge-169.jpg "data-src-large =" // cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy- cure-study-super-169.jpg "data-src-full16x9 =" // cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy-cure-study-full-169.jpg "data -src-mini1x1 = "// cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy-cure-study-small-11.jpg" data-demand-load = "not-loaded" data -eq-pts = "mini: 0, xsmall: 221, small: 308, medium: 461, large: 781" src = "data: image / gif; base64, R0lGODlhEAAJEAAAAAP /////// wAAACH5BAEAAAIALAAAAAQAAkAAAIKlI + py + 0Po5yUFQA7 "/> [19659041] Yes ” Ceon “im Skatepark, jetzt als Kleinkind. ” class=”media__image” src=”http://cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy-cure-study-large-169.jpg”/> "class =" media__image "src =" http://cdn.cnn.com/cnnnext/dam/assets/190417105825-02-bubble-boy-cure-study-large-169.jpg "/ >

Hawkins brought Ja & Ceon, a baseball fan, to a meeting with Barry Bonds, a former San Francisco Giants star player. Apart from Hawkins and a doctor, he was the first to arrest Ja & #; Ceon.

"He never knew Ja's condition because I did not speak to him, but he could hold him and we took pictures," Hawkins said. "That was the third day outside the hospital."

"I really prayed for a miracle, and I think that happened"

  Omarion as a baby with SCID-X1.

As for Omarion Jordan, he is now a Goldfish cracker-loving, happy and healthy boy – but that was not always the case.

When Omarion Was Born For Nearly One Year In Indiana, the state had not tested newborns for SCID, and his family did not know about his condition. As a toddler, he was often faced with health problems such as rashes or scaly patches on his skin, but nobody knew why.

"They somehow sensed what was wrong, as if they told me he had a baseball cap, eczema, he had a milk allergy," said his mother, Kristin Simpson.

"I just felt nobody was taking me seriously and that it was far more serious than anyone would have guessed," she said.

  Omarion with an infection.

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

In the hospital, "they said he had pneumonia, he had a viral infection, he had a fever, it was hard to breathe, and they were doing more and more tests," Simpson said. "Then I remember they told me he had X-related SCID."

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

  Omarion and his mother, Kristin Simpson,

Following Omarion's diagnosis, Simpson and his doctors endeavored to to keep him from germinating, and he could not keep him out in the open for months. Then he was enrolled in the study for the new gene therapy.

After that, Simpson was told that her son had been successfully treated.

"To be honest, I expected the worst," she said. [19659002"IchhabewirklichfüreinWundergebetetundichdenkedasistwaspassiertistIchglaubenichtdasseseinWunderist"sagtesie"SobaldwirherausfandendassergeheiltwarmachteertatsächlicheinNickerchenundwirwecktenihnumihnnachdraußenzubringenunddannwarenwirdenganzenTagdraußenbisereinschlief"

What's Next for gene therapy

were Yes & # 39; Ceon and Omarion two of eight infant patients who were involved in the new study. The patients, who had a mean age of 3 ½ months and were newly diagnosed with SCID-X1, were treated with gene therapy.

The therapy involved collecting stem cells from their bone marrow and using a virus as a vector to introduce a healthy copy of the IL2RG gene into the patient's cells before these cells were re-infused into their bodies. "The process takes about 10 days," she said.

"Before the gene-corrected blood stem cells were re-infused into the patients, the infants received low-dose busulfan for two days, which was most commonly used as a chemotherapeutic in bone marrow transplantation to make room in the medulla to allow donor stem cells to grow was really great for our patients, "said Mamcarz.

The vector used in therapy was a technical copy of the human immunodeficiency virus or HIV, but patients "can not contract HIV," said Drs. Morton Cowan, a pediatrician at the University of California at San Francisco, was the author of the study. "It came into being as HIV, but it really is not HIV anymore when it's introduced," he said. The virus was designed to remove its active parts for safe use.
"This virus is capable of bringing the healthy copy of the gene into stem cells in a way that was previously unavailable, and we believe that this type of virus is safer and more effective for gene therapy," Dr. Stephen Gottschalk, chairman of the Department of Bone Marrow Transplantation and Cell Therapy at St. Jude Children's Research Hospital, and author of the study, on Tuesday.

Such gene therapies may also be associated with cancer risk because delivery of the IL2RG gene into a patient's cells could affect adjacent genes. However, Gottschalk said that the HIV vector was engineered to contain insulators that block activation of the surrounding genes.

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

All patients survived the treatment and averaged 16.4 months post-treatment, according to the study. Further research is required to determine if the effects persist with age.

Researchers are studying how this gene therapy can be used to treat patients of old age and other types of diseases . [19659002Forexample"thesamevectoroftheshehasbeenmorethanhavebeenhadbeenbeenbeenhadbeenbeenbeenbeenbeenbeenhedbyindependentchildrenwhohavehadunsuccessfulbonemarrowtransplantation"saidMamcarz

"We are investigating other immunodeficiency. But this vector could potentially be used to treat sickle cell disease, a life-threatening blood disorder that is very common worldwide," she said.

CNN's Nadia Kounang contributed to this story.

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