Selumetinib granted orphan designation for neurofibromatosis type 1

AstraZeneca and Merck & Co., (known as MSD outside the US and Canada) have announced that the European Medicines Agency (EMA) has granted orphan designation to selumetinib, a MEK 1/2 inhibitor, for the treatment of neurofibromatosis type 1 (NF1).

NF1 is an incurable genetic condition that affects one in 3,000 newborns worldwide. The severity of signs and symptoms associated with the NF1 gene can be highly variable, are often mild-to-moderate and may include skin, nerve and skeletal manifestations. Plexiform neurofibromas (PNs) are benign tumours on nerve sheaths that develop in 20-50% of patients, and as they continue to increase in number and size, cause moderate-to-severe morbidities such as pain, motor dysfunction and disfigurement.

People 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. NF1 also increases a person’s risk of developing other cancers, including malignant brain and peripheral nerve sheath tumours, and leukaemia. Symptoms begin during early childhood, with varying degrees of severity, and can reduce life expectancy by up to 15 years.

The potential benefit of selumetinib in NF1 is being explored in the Phase I/II SPRINT trial in paediatric patients with inoperable NF1-related PNs.

Orphan designation is a status assigned to a medicine intended for use in rare diseases. To be granted orphan status by the EMA, a medicine must be intended for the treatment, prevention or diagnosis of a disease that is seriously debilitating/life threatening and has a prevalence of up to five in 10,000 in the European Union. Additionally, the intended medicine must aim to provide significant benefit to those affected by the condition.

Sean Bohen, Executive Vice President, Global Medicines Development and Chief Medical Officer at AstraZeneca, said: “There is no cure for NF1, a life-long and devastating condition, and current treatment choices for these patients are very limited. The granting of an orphan designation is a positive step forward for children with NF1 and their families.”

Roy Baynes, Senior Vice President and Head of Global Clinical Development, Chief Medical Officer, MSD Research Laboratories said: “NF1 is a relatively rare disease, but can lead to life-threatening complications in those affected by it. This underscores the importance of this collaborative effort between MSD and our partner AstraZeneca to help patients impacted by this debilitating genetic condition.”