Publicado: Sol, Abril 21, 2019
Salud | Por Gertrudes Rodriquez

Babies with 'bubble boy' disease cured with HIV treatment

Babies with 'bubble boy' disease cured with HIV treatment

"This is a first for patients with SCID-X1", Mamcarz said. "A simple infection like the common cold could be fatal".

Their bone marrow does not produce the protein needed to boost their immune system because of a mutation of the interleukin-2 receptor sub unit gamma (IL2RG) gene.

In a trial involving eight youngsters, scientists replaced the faulty gene that causes the condition. Researchers stated numerous infants had been discharged from the hospital inside one month.Dr. Ewelina Mamcarz of St Jude, a writer of the research, mentioned in a press release: "These sufferers are toddlers now, who are responding to vaccinations and have immune methods to make all immune cells they want for defense from infections as they discover the world and reside regular lives".

UCSF played an instrumental role in the St. Jude protocol by including targeted dosing of busulfan, a chemotherapy agent commonly used in bone marrow transplantation to make space in the marrow for donor stem cells to grow. Still, previous gene therapy techniques either did not fully restore immune function or resulted in side effects as serious as leukemia.

If a person is born with a defective, missing or mutated gene, they can develop a disease. The eighth infant also responded after receiving a booster shot of gene-corrected stem cells.

Moreover, some participants in certain early gene therapy studies later developed leukemia, which scientists suspect was because the vector activated genes that control cell growth. They must rely on blood stem cells from other donors. Six to 24 months later, all of the children are producing the type of cells needed to fight infection. Before reinfusion, patients got individualized doses of nonmyeloablative busulfan chemotherapy for a "cumulative AUC of 22 mg × hour per liter, which is approximately 25% of the typical cumulative AUC used for allogeneic hematopoietic stem-cell transplantation", the researchers noted.

The gene to correct the problem was inserted into a modified version of HIV, the virus that causes AIDS.

The most famous patient was David Vetter, an American boy who died in 1984 at the age of 12. "The outcome has been truly outstanding for our patients".

"There remains a theoretical risk but so far with this type of vector (i.e., self-inactivating, or SIN, configured vector), no leukemias have been observed in any of the current HIV-based lentiviral vector studies including in patients with hemoglobinopathies and other diseases such as adrenoleukodystrophy or metachromatic leukodystrophy", commented Hans-Peter Kiem, MD, PhD, director of the stem cell and gene therapy program at the University of Washington in Seattle.

Currently, the best treatment for SCID-X1 is bone marrow transplantation with a tissue-matched sibling donor. Researchers have since searched for ways to deliver gene therapy without such side effects.

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Now, a gene therapy advance described in a small New England Journal of Medicine study seems to have safely produced a robust immune response in eight young patients, offering families and doctors new hope.

"Past gene therapy efforts did not have these insulators which inadvertently caused leukaemia by activating the genes next to the inserted vector", Professor Gottschalk said. "So there is right now no early evidence of even a premalignant state in the patients we have treated so far".

Also, it's another respect in which gene therapy could hold an advantage over bone marrow transplant from a matched donor, added Sullivan.

Charlotte Cunningham-Rundles, MD, PhD, a clinical immunologist at Mount Sinai Hospital in New York City who was not involved in the trial, agreed.

"For a long time we didn't know what was wrong with him".

But for now, the results suggest the children are cured, Dr Mamcarz said.

"In this study they said, that worked pretty nice in these really challenging cases, how about we move over to these kids who are a couple of months old?" Now they are home, living normal lives, attending daycare.

"This part has been extremely rewarding".

Omarion Jordan, who turns one later this month, had the therapy in December. "He's like a normal, healthy baby", Simpson said.

The therapy meant their bodies could, for the first time, create their own crucial white blood cells called T cells, B cells and natural killer (NK) cells.

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