Gene Therapy in a Patient with Sickle Cell Disease — NEJM according to : NEJM

Panel D shows red-cell deformability 12 months after gene therapy in the patient as compared with his heterozygous (A/S) mother (Control 1) and another patient with sickle cell disease (Control 6). Figure 2Results of Sickle Cell Disease–Specific Red-Cell Assays. The mean red-cell deoxygenation curve (solid black line) and the mean red-cell reoxygenation curve (dashed black line) for 15 untreated patients with sickle cell disease are also shown. Panel E shows the red-cell density profile 12 months after gene therapy in the patient, obtained with the use of a phthalate gradient. Panel C shows oxygen dissociation curves for red cells 12 months after gene therapy in the patient and in the patient's heterozygous (A/S) mother (Control 1).




Sickle cell disease is one that mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean, and Asian origin. Fifteen months later, the boy, now 15, is not suffering from any of the effects of sickle cell disease. The afflicted have unusually shaped (sickle) blood cells thanks to a coding error in the gene for hemoglobin, the oxygen-carrying segment of red blood cells. Now, the same type of process has been used to cancel out all the symptoms of a French teenager's sickle cell disease. Sickle cells in among normal blood cells.

Sickle Cell Disease Gene Therapy

Case Report: Sickle Cell Disease Gene TherapyJames Radke13-Year-Old Boy Now Participating in Normal Physical ActivitiesSafetyReferenceIn the latest issue of the New England Journal Medicine , there is a report on the success of Bluebird Bio's gene therapy for sickle cell disease. Gene Therapy in a Patient with Sickle Cell Disease. The report summarizes the results from a 13-year-old boy with the βS/βS genotype who had a history of numerous vasoocclusive crises who in May 2014 received an infusion of Bluebird Bio's LentiGlobin BB305.More than 15 months after transplantation, no sickle cell disease–related clinical events or hospitalization had occurred. All these events resolved over time.No adverse events related to the LentiGlobin BB305–transduced stem cells were reported.The researchers concluded thathis case report provides proof of concept for this approach and may help to guide the design of future clinical trials of gene therapy for sickle cell disease.Additional data on LentiGlobin treatment in sickle cell disease is currently being collected in a multicenter, phase 1/2 clinical study in the United States.In December 2016, we talked with one the investigators, Marina Cavazzana, MD, PhD, of the Hôpital Universitaire Necker-Enfants Malades, Paris, France about bluebird bio's gene therapy to treat β-thalassemia and sickle cell disease.Ribeil J-A, Hacein-Bey-Abina S, Payen E, et al. Further, all medications, including pain medication, were discontinued.



collected by :Lucy William

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