Category Archives: Transhuman News

By Amy Norton HealthDay Reporter

WEDNESDAY, Oct. 8, 2014 (HealthDay News) -- A new form of gene therapy may offer a safe and effective way to treat "bubble boy" disease -- a severe immune deficiency that is fatal unless treated in infancy.

Researchers have long known that gene therapy can cure the disease, known medically as severe combined immunodeficiency, or SCID. Over a decade ago, trials in Europe showed that gene therapy worked -- but five of the 20 children treated developed leukemia (a type of cancer) within two to five years, according to background information in the study.

In the new trial, reported in the Oct. 9 New England Journal of Medicine, researchers refined the gene therapy approach to hopefully negate the leukemia risk.

Eight of nine children who received the therapy are still alive one to three years later, the investigators report. And so far, none has developed leukemia.

It's too early to say the therapy carries no leukemia risk, cautioned researcher Dr. David Williams, a pediatric hematologist/oncologist at Dana-Farber Cancer Institute and Boston Children's Hospital.

"We'll continue to follow these children for 15 years," Williams said.

But based on the early results, he noted, the tweaked gene therapy appears as effective at generating a functional immune system as the earlier form of treatment.

SCID refers to a group of rare genetic disorders that all but eliminate the immune system, according to the Immune Deficiency Foundation (IDF). That leaves children at high risk of severe infections.

In the United States, 40 to 100 babies are born with SCID each year, according to the National Institutes of Health. Early detection is becoming more common because a screening test recently became available. So far, 24 states and the District of Columbia have adopted the test, according to the IDF.

View post:
Gene Therapy Shows Potential for 'Bubble Boy' Disease

TIME Health Genetics Gene-Therapy Trial Shows Promise Fighting Bubble Boy Syndrome The immune system-related disease affects about 1 in 100,000 babies each year

A new gene-therapy treatment is showing promise in treating a rare and severe congenital condition that involves extreme immune-system deficiencies.

Bubble boy syndrome, an X-linked condition, takes its name from a famous case in which an affected boy, vulnerable to infection, lived inside a plastic bubble that protected him from the worlds germs. Outside of such sterile environments, babies with the syndrome seldom live longer than a year, the Wall Street Journal reports.

The condition has for decades bested medical researchers, despite occasional bouts of optimism hope for one previous gene-therapy treatment was felled when some recipients developed leukemia.

Gene-therapy treatment works, essentially, by replacing unperforming genes with functional ones. Dysfunctional cells are removed from the childs immune system and exposed to a genetically engineered virus that can reprogram the cells to function properly, explains Reuters. Those cells are then reinserted back into the patient.

In the earlier treatment, the virus to which the cells were exposed apparently activated a part of their genetic code that leads to leukemia, Reuters says.

But initial results reported in the New England Journal of Medicine show that none of the nine babies from the U.S. and Europe who received the latest treatment are exhibiting any signs of cancer.

Of the nine infant participants in the research who were between 4 and 10 months old when they began receiving the therapy eight were still alive 16 to 43 months later, without living in a protective bubble. (The ninth child died four months after treatment began from an earlier infection he had been fighting.)

Out of the eight boys still living, the treatment upped blood T-cell levels, rebuilding the immune system, of seven. In the case of the eighth child, the treatment did not rebuild his immune system, but a successful stem-cell transplant has kept him in improved health, Reuters reports.

Follow this link:
Gene-Therapy Trial Shows Promise Fighting Bubble Boy Syndrome