AstraZeneca, Merck NF1 treatment granted orphan status by EMA

NF1 is caused by a spontaneous or inherited mutation in the NF1 gene and affects approximately one in 3,000 births, the two companies said.

The disease is associated with many symptoms, including soft lumps on and under the skin, skin pigmentation, and, in 20-50% of patients, benign tumours on the nerve sheaths.

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, Astra and Merck said.

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, they added.

"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," said Sean Bohen, AstraZeneca executive vice-president, global medicines development and chief medical officer.

In July 2017, AstraZeneca and Merck announced a global strategic oncology collaboration to co-develop and co-commercialise Lynparza, the world's first PARP inhibitor and potential new medicine selumetinib, a MEK inhibitor, for multiple cancer types.

According to the two companies, 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.