ASH 2017: Preliminary results show gene therapy gains in SCID

Ewelina K. Mamcarz, MD, presented Dec. 10, 2017, at the American Society of Hematology's (ASH) Annual Meeting & Exposition in Atlanta, Georgia.

X-linked SCID, severe combined immunodeficiency, is an inherited condition where a person cannot produce infection-fighting cells: T-cells, B-cells and natural killer cells. It's a rare and devastating disease. Without treatment, babies born with SCID can contract infections and die by age two. The best available treatment, a stem cell transplant, is also very risk, and  approximately 30 percent who are treated with a transplant die by age 10. Studies with gene therapy, an experimental treatment, has also revealed a risk of leukemia.

At this year's ASH meeting, there has been exciting news reported on gene therapy for a variety of diseases, including our work in X-linked SCID (Abstract 523).

We've treated seven infants who were born with X-SCID with gene therapy. By using an inactive form of HIV, we inserted the corrected gene in place of the defective gene that spurs the development of X-linked SCID. We also used finely-calibrated doses of busulfan to prepare the infants’ bone marrow to receive the corrected stem cells. So far, the treatment has resulted in the development of T-cell, B-cell and natural killer cells in these patients, but without side effects.

We consider these preliminary results to be a substantial breakthrough for this disease. Five of the patients no longer have SCID precautions because their T cell numbers are normal and functioning.

If this form of gene therapy proves successful and safe, we could cure the many patients who do not have a sibling donor for a transplant, reduce dependency on immunoglobulin and avoid the risks associated with graft-versus-host disease.

About the author

Ewelina Mamcarz, MD, is an assistant faculty member of the Bone Marrow Transplant and Cell Therapy Department at St. Jude Children’s Research Hospital. View full bio.

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