Gene therapy breaks 'bubble boy disease'

Gene therapy's comeback as a viable treatment approach just got another boost. A majority of patients with the immune disorder commonly known as "bubble boy disease" responded to an experimental gene therapy in another big win for what had been a snake-bitten area of biotech research for years.

In a pair of studies involving patients in Italy, France and the U.S. and published this week in Science Translational Medicine, 14 of 16 patients who got the gene-correcting treatment showed that their immune functions could be restored. The therapy was not without risks. For example, one of the patients with the immune disorder--called severe combined immunodeficiency--developed leukemia after treatment. The patient was successfully treated with chemotherapy. And the gene therapy showed it could keep patients' immune systems functioning for up to 9 years.

There are potential advantages of the gene therapy, which uses a viral carrier molecule to insert a healthy gene into the patients' own hematopoietic stem and progenitor cells. It's often difficult for patients to find matching donors for bone marrow transplants to combat the illness. And the transplants carry potential such side effects as graft-versus-host disease.

"What we knew from earlier was that the immune system could be restored, but we weren't clear on how that would be sustained over time," Adrian Thrasher, an immunologist at the University College London, who took part in the studies, told Bloomberg. "Now we know it is sustained, and the long-term recovery appears to be comparable to conventional transplant."

Still, the gene therapy obviously comes with its own risks. With the next round of studies planned for the gene-therapy treatment for bubble boy disease, which affects only 40 to 100 babies a year, the researchers plan to use a new virus to deliver the genes into patients' cells--it is hoped with fewer side effects--according to the Bloomberg article.

- check out the story in Bloomberg
- read a piece on the studies in Science Translational Medicine (sub. req.)

Special Report: Rare diseases: All the rage in Big Pharma

Suggested Articles

Reata’s bardoxolone improved kidney function in a phase 3 trial of patients with a rare form of chronic kidney disease.

The suit alleges the FDA imposed the hold “without notice or explanation” and has since “rebuffed” Regenxbio’s repeated requests for an explanation.

Bolt Biotherapeutics presented positive results from animal trials of its lead drug, a tumor-targeting antibody connected to an immune stimulator.