Sickle cell patient’s recovery after gene therapy heightens hopes for a cure

Jennelle Stephenson, 28, who was born with sickle cell disease, shared her experience of recovery after receiving genetic treatment as part of an NIH clinical trial that might hold the key to a cure of this disease.

On March 10, CBS 60 Minutes reported on Stephenson’s condition before receiving the bone marrow transplant in November 2017, the details of the trial, and her life in the last 15 months. The segment also featured interviews with NIH’s researcher John Tisdale, M.D., the trial’s principal investigator; and Francis S. Collins, M.D., Ph.D., director of the NIH.

“I am feeling amazing after the treatment; but it has been a year of adjustment, for sure,” Stephenson said. “I have been testing my body’s new limits, and really exploring my level of physical fitness.”

This clinical trial, which is still recruiting participants, is testing a novel gene replacement therapy in people with severe sickle cell disease. Preliminary findings suggest that the approach has an acceptable level of safety and might help patients consistently produce normal red blood cells instead of the sickle-shaped ones that mark this painful, life-threatening disease.

People interested in participating should contact the Office of Patient Recruitment by phone 1-800-411-1222 or email prpl@cc.nih.gov.

The experimental treatment involves removing hematopoietic stem cells from the patients’ bone marrow or blood and adding a therapeutic beta globin gene, which is defective in people with sickle cell disease. The cells are then returned to the patients, leading to the production of anti-sickling hemoglobin (T87Q).

Based on preliminary findings, which were presented at the latest meeting of the American Society of Hematology, researchers believe the new gene replacement therapy will enable the patients’ bone marrow to produce normal red blood cells consistently.

Learn more about this trial:

Visit the Office of Patient Recruitment

Call 1-800-411-1222

Email prpl@cc.nih.gov