April 2022

ONCOLOGY

LIFE-CHANGING GENE THERAPY FOR BETA-THALASSEMIA PATIENTS WITH JENNIFER SCHNEIDERMAN, MD

Featuring:  Jennifer Schneiderman, MD
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A novel gene therapy promoted transfusion independence in more than 90 percent of adult and pediatric patients with transfusion-dependent beta-thalassemia. Study co-author Jennifer Schneiderman, MD, discusses results, published in the New England Journal of Medicine.


​“It's been actually really inspiring to see these patients…because they were just so hopeful and so brave for embarking on this journey, seeing how their lives have been changed and not really being chained to their medical home as much as they had been. Seeing them be able to get away from their thalassemia has really been amazing.” 
— Jennifer Schneiderman, MD

Episode Notes 
​For patients with beta-thalassemia major, the only curative treatment so far has been allogeneic hematopoietic stem cell transplant, which requires finding a compatible donor and runs the risk of graft versus host disease. Jennifer Schneiderman, MD, co-author of the new study, discusses her involvement in a phase 3 clinical trial, recently published in the New England Journal of Medicine, in which patients underwent a novel gene therapy with remarkable results, eliminating the need for an allogeneic hematopoietic stem cell transplant.
  • Schneiderman specializes in pediatric stem cell transplantation at Feinberg, and in particular, finding innovative and less toxic ways of performing stem cell transplants in children with various types of cancers and hemoglobin disorders, including those with thalassemia and sickle cell disease.
  • Beta-thalassemia is a disorder of red blood cells in which mutations occur in beta-globin genes that either reduce or prevent the production of beta-globin. This leads to an imbalance in hemoglobin molecules that shortens the lifespan of red cells.
  • There are over 300 known mutations in beta-globin, making beta-thalassemia a disorder of great clinical variation.
  • Largely diagnosed in infancy, beta-thalassemia typically shows up in most newborn screening programs for infants born in the United States. 
  • Beta-thalassemia occurs in about 60,000 births per year worldwide, most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia. 
  • Patients with beta-thalassemia minor make a reduced amount of beta-globin, but don't need red cell transfusions. Patients with beta-thalassemia major make virtually no beta-globin and have zero normal red blood cells, making them transfusion-dependent.
  • Life-long blood transfusions lead to poor quality of life for many including shortened lifespan, living only into their 40s, as well as complications from transfusions like iron overload. 
  • For patients with beta-thalassemia major, the only curative treatment so far has been allogeneic hematopoietic stem cell transplant, which requires finding a compatible donor such as a sibling and runs the risk of graft versus host disease. The treatment also requires chemotherapy.
  • In the novel gene therapy, phase 3 clinical trial conducted at the Ann & Robert H. Lurie Children’s Hospital of Chicago, patients have instead undergone autologous hematopoietic stem cell transplantation, meaning stem cells from the patient’s own body are altered. This therapy eliminates the need for a donor, and while it still requires chemotherapy, the hope is to eventually eliminate the need for it. 
  • A remarkable 91% of patients in this clinical trial were rendered transfusion-independent after receiving the novel gene therapy.
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Recorded on April 13, 2022
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This podcast was originally recorded in the Northwestern University Feinberg School of Medicine News Center on April, 2022. 
Jennifer Schneiderman, MD associate professor of Pediatrics in the Division of Hematology, Oncology and Stem Cell Transplantation

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