MedicalResearch.com Interview with:
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Dr. Gwarzo[/caption]
Ibrahim Gwarzo, DrPH, MPH, MBBS
Research Scientist at Nemours Children’s Health
Delaware Valley, Delaware USA
MedicalResearch.com: What is the background for this study? Would you briefly explain the condition of sickle cell disease and why young people frequently present to the ER with severe pain?
Response: Sickle cell disease is an inherited blood disorder that affects red blood cells. It is passed down as an autosomal recessive disorder, meaning a person must inherit the defective gene from both parents to have the disease. The condition primarily impacts hemoglobin, the protein responsible for carrying oxygen in red blood cells, which leads to changes in the shape and stability of these cells. The complications associated with the disease, including recurrent and severe pain episodes, are a direct result of these changes. These pain episodes are debilitating and unpredictable, resulting in frequent emergency department visits where they are typically treated with pain medications, including opioids. It is estimated that around 100,000 people in the United States have sickle cell disease, with about 40,000 being children. The disease has a significant prevalence in the Afro-Latino population.
Dr. Brousseau[/caption]
David Brousseau, MD, MS
Chair of Pediatrics
Nemours Children’s Health, Delaware and the
Sidney Kimmel Medical College at Thomas Jefferson University
Dr. Mapara[/caption]
Markus Y Mapara, MD
Professor of Medicine
Director of the Blood and Marrow Transplantation
Columbia University Medical Center
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Sickle cell disease is caused by a point mutation in the beta-globin gene of hemoglobin resulting in the production of abnormal hemoglobin which leads to formation of sickle-shaped RBC under conditions of low oxygen. Sickle cell disease affects about 100,000 patients in the US which are predominantly African American. The only curative approach is to perform an allogeneic bone marrow transplant which is however fraught with significant treatment-related risks if a matched sibling donor is not available.
The current study describes the successful application of a novel gene therapy to treat patients with sickle cell disease. The strategy is based on a gene-addition approach to introduce the genetic information for a Hemoglobin F-like molecule termed HgAT87Q into hematopoietic stem cells. The expression of this novel hemoglobin prevents polymerization of HgbS and has now been demonstrated to prevent the occurrence of vaso-occlusive pain crises in sickle cell disease patients.