Neurofibromatosis type 1 (NF1) is a serious rare genetic disease, which affects about 1 in 3,000 people and can cause the development of tumors of the sheath that covers the nerves of the peripheral nervous system as early as childhood. These tumors, called plexiform neurofibromas, occur in 30-50% of cases and can cause deformation, pain, vision problems, bladder or intestinal dysfunction, impair movement and function of the airways. Now the European Commission has approved the first drug, selumetinib, to treat this condition.
The new therapy
It is a molecularly targeted oral drug, MEK1 / 2 inhibitor. In the phase II study SPRINT Stratum 1, conducted in 50 pediatric patients, demonstrated an objective response rate of 66%. The findings are published in The New England Journal of Medicine. “To date, in Italy, the only treatment option for pediatric patients with plexiform neurofibromas related to type 1 neurofibromatosis is surgery, when possible,” he explains Veronica Saletti of the Carlo Besta Neurological Institute of Milan: “The approval of selumetinib is based on the results of the SPRINT study where the molecule has shown that it can reduce the volume of inoperable plexiform neurofibromas, with a benefit in terms of quality of life for patients with this pathology. We hope that all pediatric patients affected by type 1 neurofibromatosis with symptomatic and inoperable plexiform neurofibromas will be able to access and therefore benefit from this treatment as soon as possible in our country “.
The illness
Type 1 neurofibromatosis is caused by a spontaneous or inherited mutation in the NF1 gene and is associated with many symptoms, including swelling of the skin (cutaneous neurofibromas) that do not create clinical and pigmentation problems (so-called “café au lait” spots) . When present, plexiform neurofibromas begin to develop in early childhood, with varying degrees of severity, and can shorten life expectancy from 8 to 15 years. “In our country about 20,000 people live with a diagnosis of neurofibromatosis,” he adds Federica Chiara, president of the LINFA Association, acronym of Lottiamo Insieme against neurofibromatosis: “The European approval of the first drug therapy for the treatment of plexiform neurofibromas gives great hope to patients and their families. The Patient Associations will do their utmost to support people suffering from neurofibromatosis every day with correct information, both on their pathology and on the centers of excellence dedicated to the treatment of this serious and disabling condition “.
Clinical trials are planned for this year to evaluate selumetinib in patients with NF-1-related plexiform neurofibromas in adulthood and a formulation for very young children.
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