EU/3/22/2668: Orphan designation for the treatment of pachyonychia congenita

Pachyonychia congenita (PC) is a rare disease caused by changes (mutations) in different genes coding for keratins (a type of proteins) expressed in keratinocyte (type of cells found in the outermost layer of the skin). The consequence is a thickening of the skin of the palms and soles (palmoplantar keratoderma) associated with a severe pain while walking. The epidermal growth factor receptor (EGFR) regulates the proliferation and differentiation of keratinocytes. Erlotinib blocks the activity of a tyrosine kinase enzyme (another type of protein) that binds to EGFR and is therefore expected to prevent the painful thickening of the skin in PC patients.

Based on description provided by sponsor

At the time of submission of the application for orphan designation:

• The effects of the medicine had been evaluated in experimental models.
• No clinical trials with the medicine in patients with pachyonychia congenita had been started.

The medicine is authorised in the EU under the trade name Tarceva for the treatment of non-small-cell lung cancer (NSCLC) that is advanced or metastatic (the cancer has spread to other parts of the body) and for the treatment of patients with metastatic pancreatic cancer, in combination with gemcitabine (another cancer medicine)

More information on how potential new medicines are tested during their development is available on Authorisation of medicines.

Medicines intended for rare diseases can be granted an orphan designation during their development.

The orphan designation allows the developer to benefit from:

• scientific and regulatory support to advance their medicine to the stage where they can request marketing authorisation;
• market exclusivity once the medicine is on the market.

To qualify for orphan designation, a medicine must meet a number of criteria:

• it must be intended for the treatment, prevention or diagnosis of a disease that is life-threatening or chronically debilitating;
• the prevalence of the condition in the EU must not be more than 5 in 10,000 or it must be unlikely that marketing of the medicine would generate sufficient returns to justify the investment needed for its development;
• there are no satisfactory alternative methods for the diagnosis, prevention or treatment of the condition or, if such a method exists, the medicine is of significant benefit to those affected by the condition.

EMA's Committee for Orphan Medicinal Products (COMP) is responsible for issuing opinions on applications for orphan designations.

The Agency sends the COMP opinion to the European Commission, which is responsible for granting the orphan designation. The full list of orphan designations is available in the Community register of orphan medicinal products for human use.

For more information, see:

• Orphan designation: Overview
• Rare diseases, orphan medicines: Getting the facts straight