Northwell Health - Feinstein Institute for Medical Research

"Sickle cell anemia is just one example of a number of red blood cell disorders that aect more than one billion people worldwide and are responsible for an enormous economic burden." — LIONEL BLANC, PHD, ASSOCIATE INVESTIGATOR WITH THE FEINSTEIN INSTITUTE, ALLIED WORLD ST. BALDRICK'S SCHOLAR AND ASSOCIATE PROFESSOR OF MOLECULAR MEDICINE AND PEDIATRICS AT HOFSTRA NORTHWELL SCHOOL OF MEDICINE A Revolutionary A multiple myeloma drug shows promise as a potential treatment for sickle cell anemia. Sickle cell diseases (SCDs) are characterized by the transformation of red blood cells from round, flexible objects that can easily move through blood vessels into rigid, sickle- or crescent moon-shaped structures that stick together in blood vessels and obstruct the passage of normal red blood cells and the oxygen they carry. The only cures for SCD are experimental gene therapy and stem-cell transplant, a treatment unavailable to many patients. The most commonly prescribed medication, hydroxyurea, can prevent sickle cell crises — instances of sudden, intense pain — but is not effective for all patients. A new study, conducted in vitro by investigators with the Feinstein Institute for Medical Research, identifies the mechanism by which pomalidomide, which is commonly used to treat multiple myeloma, increases the production of fetal hemoglobin, making it a potentially effective treatment for SCD. The Treatment Mechanism. Adult hemoglobin, which is produced after birth, is abnormal and subject to sickling in patients with congenital SCD. Reverting the production of adult hemoglobin to fetal hemoglobin — which is normal — could reverse the course of sickle cell disease. "Fetal hemoglobin prevents the formation of aggregates, so red blood cells in that state do not exhibit the sickling that happens in SCD," said study leader Lionel Blanc, PhD, associate investigator with the Feinstein Institute, Allied World St. Baldrick's Scholar and associate professor of Molecular Medicine and Pediatrics at Hofstra Northwell School of Medicine. Preventing red blood cells from sickling would allow patients to avoid complications of SCD, which include anemia, infections, organ damage and stroke. Dr. Blanc is currently collaborating with other facilities to design a clinical trial that will treat young adult males living with sickle cell anemia. Ultimately, Dr. Blanc and his colleagues want to develop a widely available oral pomalidomide treatment. "Hydroxyurea is the only drug approved by the United States Food and Drug Administration for SCD, and while it's an excellent treatment for some, it's not as effective in others, and some patients have side effects," Dr. Blanc said. "Our own in vitro data suggests that pomalidomide is at least two to three times more potent than hydroxyurea." Learn more about the research being conducted at the Feinstein Institute at FeinsteinInstitute.org. to Sickle Cell Treatment Approach 6 / Fall 2016 Research Findings

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