About Neurofibromatosis Type 1 (NF1)
NF1 is an inherited condition that causes tumour growth, which is usually benign (non-cancerous). People with NF1 are born with the condition, although the symptoms may not become apparent for years.
NF1 is caused by a genetic mutation. According to the NHS, it may cause symptoms such as non-cancerous tumour growth, pale brown patches on the skin, and problems with the eyes, bones, and nervous system. Other conditions are often associated with NF1, such as learning difficulties.
According to the source article, NF1 is estimated to affect one in every 3,000 newborns.
Selumetinib is an investigational drug that is being researched for its potential use as a medicine for several conditions. It is believed to work by inhibiting MEK 1/2. According to the source article, alterations in the NF1 gene can impact signalling in a range of molecules involved in cell growth, including MEK, and this can lead to uncontrolled proliferation and tumour growth. The investigational drug selumetinib inhibits the MEK enzyme, and this may reduce tumour growth.
The effects of selumetinib on NF1 are being investigated in a Phase 1/2 trial (Sprint). This study involves paediatric patients who have inoperable NF1-related PNs. Some data have been released from this trial already, but the full results are expected later this year.
About Orphan Drug Designation
Selumetinib was previously awarded Orphan Drug status for the treatment of NF1 in the US by the Food and Drug Administration in February 2018. Now, selumetinib has also been granted Orphan Drug Designation by the European Medicines Agency (EMA).
The EMA awards Orphan Drug status to medicines intended to treat serious rare conditions in Europe. A condition fits this description if it affects fewer than five in 10,000 people in the EU. The designation provides developers with a number of incentives that are designed to support the drugs further development. For example, drugs with Orphan designation may be eligible for scientific advice during development, a longer period of marketing exclusivity, and certain fee reductions. These benefits are hoped to support the development of drugs for rare conditions. For more information about the EMA’s Orphan Drug Designation, click here.