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Neurofibromatosis treatment granted orphan status by EMA

August 03, 2018 / Piotr Wnuk

AstraZeneca and Merck & Co. announced the European Medicines Agency (EMA) has granted orphan designation to their codeveloped selumetinib, for the treatment of neurofibromatosis type 1 (NF1), an incurable genetic condition that affects one in 3,000 newborns worldwide. NF1 is caused by a spontaneous or inherited mutation in the NF1 gene and affects newborns with many symptoms, including soft lumps on and under the skin, and skin pigmentation. Neurofibromatosis can also lead to benign tumors on the nerve sheaths (plexiform neurofibromas) in approximately 20-50% of patients causing pain, motor dysfunction and disfigurement. Patients with NF1 may experience a number of other complications such as learning difficulties, visual impairment, twisting and curvature of the spine, high blood pressure, and epilepsy, AstraZeneca and Merck & Co. said in a statement.