GSK moves to develop gene therapy for ‘bubble boy disease’

GlaxoSmithKline, GSK

GlaxoSmithKline (NYSE:GSK) is making headway on efforts to develop and commercialize a new gene therapy for a rare but serious form of an immune deficiency sometimes called “bubble boy disease.”

Adenosine Deaminase Deficiency-Severe Combined Immune Deficiency, or ADA-SCID, is often fatal in children. London-based GSK, which has its U.S. headquarters in Research Triangle Park, North Carolina, licensed an investigational gene therapy for the disease from the San Raffaele Telethon Institute for Gene Therapy in a 2010 deal worth more than $14 million up front to the Italian institute. Now GSK has signed a two-year, $7.7 million deal with Italian biotechnology company MolMed (MILAN:MLM) for that company to develop a production process for the gene therapy.

ADA-SCID is caused by the alteration of a single gene. That alteration prevents the body from producing the enzyme adenosine deaminase (ADA), an enzyme that helps create disease-fighting immune cells. Patients who have the condition can’t fight bacteria or viruses.


The disease affects an estimated 350 children worldwide. About 14 children in the European Union and 12 children in the United States are born with the condition each year. Treatment is usually a bone marrow transplant from a donor. But even when the stem cells come from a closely matched or related donor, the risk of rejection remains. Enzyme replacement therapy requires frequent injections and is not a cure.

The investigational gene therapy being developed by GSK uses gene transfer technology. Stem cells are harvested from the patient’s body and the correct form of the gene is inserted into the cell. The cells are then re-introduced to the patient. Using the patient’s own cells poses less of a risk of immune rejection compared to bone marrow transplants.

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