Gene therapy might be a cure for "bubble boy disease"

Infants cured of 'bubble boy' immune disease with experimental gene therapy

Infants cured of 'bubble boy' immune disease with experimental gene therapy

But now, children born with a disease that robs them of a functioning immune system may have gained a new lease on life. 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.

"The treatment, pioneered by St. Jude doctor Brian Sorrentino who recently died, involves removing some of the babies' blood cells, using the altered HIV to insert the gene that the patients lack - and returning the cells through an IV".

USA scientists say they used HIV to make a gene remedy that cured eight infants of extremely mixed immunodeficiency, or "bubble boy" illness.

"This is one of those diseases in which there's probably more doctors and scientists studying the disease than patients who have the disease", Porteus says.

"For a long time we didn't know what was wrong with him. He just kept getting these infections", said his mother, Kristin Simpson.

Now, with continual advances in treating SCID, "it's just nice to see another success for gene therapy", Kohn says. "The treatment has fully restored the immune system, which wasn't possible before, and has no immediate side effects".

'He's like a normal, healthy baby, ' Ms Simpson said.

Study results were published by the New England Journal of Medicine.

The 10th child is due to be released from the hospital this week, about four months after treatment.

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. It affects 1 in 200,000 newborns, nearly exclusively males.

"This study marks the first time a lentivirus vector and targeted low-dose busulfan have been used as a primary treatment for newly diagnosed infants with SCID-X1", Mamcarz said. "A simple infection like the common cold could be fatal". His story inspired several films about the disease, including the 1976 film "The Boy in the Plastic Bubble" starring John Travolta.

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Until now, the best treatment for these hard cases relied on using bone marrow transplants from tissue-matched siblings to restore immunity.

Previous gene therapy approaches have been developed to provide alternatives to bone marrow transplants, but the therapies sometimes need to be accompanied by chemotherapy and have been associated with the development of other illnesses including metabolic syndrome and blood disorders such as thalassemia and sickle cell anemia.

After extracting the stem cells from the patients' bone barrow, an engineered lentivirus that can not cause other illnesses was used as the vector to carry the corrected IL2RG into cells.

The new work "is a significant step forward in the development of gene therapy and specifically for these diseases", Fischer told Reuters Health in a telephone interview.

With this in mind, the researchers at St. Jude turned to gene therapy - an experimental technique whereby a reengineered virus is used as a vehicle "to introduce a normal copy of the mutated gene into patients' blood stem cells", said Dr. Steven Gottschalk, a co-author of the study from the same department at St. Jude as Mamcarz.

All but one of the patients had working immune systems within three months of their first round of gene therapy - the final patient needed a second round before it succeeded.

In X-SCID, immune cells that fight off bacteria, viruses and fungi do not develop or function properly, leaving the infants susceptible to recurrent and persistent infections.

This process is less likely to cure the bubble boy disease, and is more likely to cause serious side effects as a result of treatment.

Omarion is the 10th boy treated in the study, which is ongoing.

Mamcarz reported relationships with Mustang Bio, the California Institute of Regenerative Medicine, the National Heart, Lung, and Blood Institute, the ASSISI Foundation of Memphis, the American Lebanese Syrian Associated Charities, and UpToDate. He was not involved in the new treatment, but helped develop an initial gene therapy for the condition 20 years ago. "To me, this looks promising".

The doctors said they have skirted the leukemia problem by implanting "insulators" around the replaced gene, preventing the treatment from accidentally activating adjacent genes and causing cancer. "It is a first for sufferers with SCID-X1", she added, referring to the most everyday sort of SCID.

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