Doctors use HIV in gene therapy to fix ‘bubble boy’ disease

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In this April 2019 photo provided by the St. Jude Children's Research Hospital, 2-year-old Gael Jesus Pino Alva plays with toys at the hospital in Memphis. (AP)
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This April 2019 photo provided by the St. Jude Children's Research Hospital shows 2-year-old Gael Jesus Pino Alva at the hospital in Memphis. (AP)
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In this April 2019 photo provided by the St. Jude Children's Research Hospital, 2-year old Gael Jesus Pino Alva is held by his mother, Giannina Alva, at the hospital in Memphis. (AP)
Updated 20 April 2019

Doctors use HIV in gene therapy to fix ‘bubble boy’ disease

  • It affects 1 in 200,000 newborns, almost exclusively males. Without treatment, it often kills in the first year or two of life

WASHINGTON: They were born without a working germ-fighting system, every infection a threat to their lives. Now eight babies with “bubble boy disease” have had it fixed by a gene therapy made from one of the immune system’s worst enemies — HIV, the virus that causes AIDS.
A study out Wednesday details how scientists turned this enemy virus into a savior, altering it so it couldn’t cause disease and then using it to deliver a gene the boys lacked.
“This therapy has cured the patients,” although it will take more time to see if it’s a permanent fix, said Dr. Ewelina Mamcarz, one of the study leaders at St. Jude Children’s Research Hospital in Memphis.
Omarion Jordan, who turns 1 later this month, had the therapy in December to treat severe combined immunodeficiency syndrome, or SCID.
“For a long time we didn’t know what was wrong with him. He just kept getting these infections,” said his mother, Kristin Simpson. Learning that he had SCID “was just heartbreaking ... I didn’t know what was going to happen to him.”
Omarion now has a normal immune system. “He’s like a normal, healthy baby,” Simpson said. “I think it’s amazing.”
Study results were published by the New England Journal of Medicine. The treatment was pioneered by a St. Jude doctor who recently died, Brian Sorrentino.
SCID is caused by a genetic flaw that keeps the bone marrow from making effective versions of blood cells that comprise the immune system. It affects 1 in 200,000 newborns, almost exclusively males. Without treatment, it often kills in the first year or two of life.
“A simple infection like the common cold could be fatal,” Mamcarz said.
The nickname “bubble boy disease” comes from a famous case in the 1970s — a Texas boy who lived for 12 years in a protective plastic bubble to isolate him from germs. A bone marrow transplant from a genetically matched sibling can cure SCID, but most people lack a suitable donor. Transplants also are medically risky — the Texas boy died after one.
Doctors think gene therapy could be a solution. It involves removing some of a patient’s blood cells, using the modified HIV to insert the missing gene, and returning the cells through an IV. Before getting their cells back, patients are given a drug to destroy some of their marrow so the modified cells have more room to grow.
When doctors first tried it 20 years ago, the treatment had unintended effects on other genes, and some patients later developed leukemia. The new therapy has safeguards to lower that risk.
A small study of older children suggested it was safe. The new study tried it in infants, and doctors are reporting on the first eight who were treated at St. Jude and at UCSF Benioff Children’s Hospital San Francisco.
Within a few months, normal levels of healthy immune system cells developed in seven boys. The eighth needed a second dose of gene therapy but now is well, too. Six to 24 months after treatment, all eight are making all the cell types needed to fight infections, and some have successfully received vaccines to further boost their immunity to disease.
No serious or lasting side effects occurred.
Omarion is the 10th boy treated in the study, which is ongoing. It’s sponsored by the American Lebanese Syrian Associated Charities, the California Institute of Regenerative Medicine, the Assisi Foundation of Memphis and the federal government.
“So far it really looks good,” but patients will have to be studied to see if the results last, said Dr. Anthony Fauci, head of the National Institute of Allergy and Infectious Diseases, which helped develop the treatment. “To me, this looks promising.”
Rights to it have been licensed by St. Jude to Mustang Bio. Doctors say they have no estimate on what it might cost if it does become an approved treatment. They say they also hope to try it for more common problems such as sickle cell disease.


Russia to send ‘Fedor’ its first humanoid robot into space

Updated 22 August 2019

Russia to send ‘Fedor’ its first humanoid robot into space

  • Fedor was to blast off in a Soyuz rocket at 6:38 am Moscow time (0338 GMT) from Russia’s Baikonur cosmodrome
  • Fedor is not the first robot to go into space

MOSCOW: Russia was set to launch on Thursday an unmanned rocket carrying a life-size humanoid robot that will spend 10 days learning to assist astronauts on the International Space Station.
Named Fedor, for Final Experimental Demonstration Object Research with identification number Skybot F850, the robot is the first ever sent up by Russia.
Fedor was to blast off in a Soyuz rocket at 6:38 am Moscow time from Russia’s Baikonur cosmodrome in Kazakhstan, dock with the space station on Saturday and stay till September 7.
The Soyuz spacecraft is normally manned on such trips, but on Thursday no humans will be traveling in order to test a new emergency rescue system.
Instead of cosmonauts, Fedor will sit in a specially adapted pilot’s seat.

The silvery anthropomorphic robot stands one meter 80 centimeters tall (5 foot 11 inches) and weighs 160 kilograms (353 lbs).
Fedor has Instagram and Twitter accounts that describe it as learning new skills such as opening a bottle of water. In the station, it will trial those manual skills in very low gravity.
“That’s connecting and disconnecting electric cables, using standard items from a screwdriver and a spanner to a fire extinguisher,” the Russian space agency’s director for prospective programs and science, Alexander Bloshenko, said in televised comments.
Fedor copies human movements, a key skill that allows it to remotely help astronauts or even people on Earth carry out tasks while they are strapped into an exoskeleton.
Such robots will eventually carry out dangerous operations such as space walks, Bloshenko told RIA Novosti state news agency.
On the website of one of the state backers of the project, the Foundation of Advanced Research Projects, Fedor is described as potentially useful on Earth for working in high radiation environments, de-mining and tricky rescue missions.
On board, the robot will perform tasks supervised by Russian cosmonaut Alexander Skvortsov, who joined the ISS last month, and will wear an exoskeleton in a series of experiments scheduled for later this month.

Robonaut 2, Kirobo
Space agency chief Dmitry Rogozin showed pictures of the robot to President Vladimir Putin this month, saying it will be “an assistant to the crew.”
“In the future we plan that this machine will also help us conquer deep space,” he added.
Fedor is not the first robot to go into space.
In 2011, NASA sent up Robonaut 2, a humanoid robot developed with General Motors and a similar aim of working in high-risk environments.
It was flown back to Earth in 2018 after experiencing technical problems.
In 2013, Japan sent up a small robot called Kirobo along with the ISS’s first Japanese space commander. Developed with Toyota, it was able to hold conversations — albeit only in Japanese.