A new therapy for the treatment of symptomatic and inoperable plexiform neurofibromas (PN) in pediatric patients with neurofibromatosis type 1 (NF1) aged three years and older. AstraZeneca and Alexion-AstraZeneca Rare Disease announce that the Italian Medicines Agency has approved the reimbursement of selumetinib, an inhibitor of proteins involved in the growth of tumor cells caused by neurofibromatosis.
The one being treated is a rare genetic disease that affects one in 3 people worldwide. It is caused by an alteration of the NF1 gene, which causes symptoms such as the appearance of nodules on the skin or under the skin, café-au-lait spots scattered across the patient's body and, in 30-50% of cases, soft-textured tumors that develop on the peripheral nerve sheaths and are called plexiform neurofibromas. The latter can appear in early childhood and have varying degrees of severity, from benign to malignant, to the point of reducing the patient's life expectancy by 8-15 years.
By blocking the enzymes responsible for the proliferation of tumor cells, selumetinib slows the growth of neurofibromas and positively impacts the pain and quality of life of those affected by neurofibromatosis.
The beneficial effects of the therapy were demonstrated by the phase II SPRINT Stratum 1 study, which showed that the use of selumetinib reduced the size of inoperable plexiform neurofibromas in children.
“Selumetinib is a drug that is taken orally twice a day, it is available in small tablets. It is administered in cycles of 28 days. The duration of therapy varies from patient to patient,” explained Dr. Maria Cristina Diana, Pediatric Neurology at the IRCCS G. Gaslini in Genoa, from the National Press Room in Milan. “Depending on the type of response, you may or may not consider continuing to take the drug.”
"This new therapy also has a profound impact on the approach that children and young people have towards everyday life. When the symptoms of the disease fade or reduce, young people can regain the desire to socialize and go to school," said Dr. Antonella Cacchione, who gave her experience at the Bambino Gesù pediatric hospital in Rome as an example. "The psychological aspect of having a non-invasive therapeutic option makes girls live better and reassures their families."
Selumetinib had already been approved in the United States, Japan and China, but now it is finally arriving in Italy after the European Union had already given its approval in June 2021. This is an important green light for the approximately 20 thousand people who suffer from this disease in our country, a fundamental milestone also for patient associations.
“Today we celebrate the first drug intended for the general population affected by neurofibromatosis type 1 and in particular for the little ones,” said smiling Dr. Federica Chiara, president of the Linfa Association. “Let's fight together against neurofibromatosis. This is a long-awaited approval, which gives us hope for future progress. And then it is a moment of celebration of a platform that works and that involves not only patient associations, but also medical researchers and pharmaceutical companies.”
The importance of creating a network of this type was also underlined by Corrado Melegari, president of Anf Odv, Neurofibromatosis Association: “Only in this way can we guarantee equal access to care in all regions of Italy”, he stated in his speech.
Neurofibromatosis is a rare disease, but the commitment carried out by pharmaceutical research is proving to be the key to giving new hope to patients. “For over thirty years we have been committed to the development of truly effective therapies for diseases of this type,” said VP & General Manager Italy of Alexion-AstraZeneca Rare Disease, Anna Chiara Rossi. “Our mission is to try to transform people's lives by making innovative drugs available to them that have a positive impact on survival and reduced progression of the disease. Selumetinib is an example of this commitment and represents a success. The approval is a source of pride for us, but we certainly won't stop here.”
Article published on March 6, 2024 - 20pm
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