Author Interviews, Hematology, Pain Research, Pediatrics / 10.12.2023

MedicalResearch.com Interview with: David Brousseau, MD, MS Chair of Pediatrics Nemours Children’s Health, Delaware and the Sidney Kimmel Medical College at Thomas Jefferson University  MedicalResearch.com: What is the background for this study? Response: Sickle cell disease (SCD) is an inherited red blood cell disorder – the most common genetic disorder in the United States, affecting about 100,000 Americans (1 of every 365 Black births and 1 of every 16,3000 Hispanic-American births) (source: CDC). Pain is its most common symptom. Patients may experience acute or chronic pain or both. Acute episodes of pain, or pain crises, can vary in duration and severity. Many are treated at home; however when the pain is excruciating and cannot be treated at home, they lead to Emergency Department (ED) visits and even hospitalization. Reducing pain through prompt administration of pain medication in the ED is a core principle of national guidelines for SCD care. However, little data exists on how pain scores and changes in pain scores in the ED are associated with the patient’s disposition and the odds of a return visit. (more…)
Author Interviews, Columbia, Genetic Research, Hematology, NEJM / 16.12.2021

MedicalResearch.com Interview with: 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. (more…)