EU/3/11/859: Orphan designation for the treatment of chondrosarcoma

Chondrosarcoma is cancer of the cartilage (the tissue that covers the ends of bones in joints). Chondrosarcoma predominantly affects middle-aged and older adults, and most commonly occurs in the long bones of the arms or legs. Patients with chondrosarcoma do not usually have symptoms in the early stages of the disease. Symptoms appear when the tumour grows large enough to cause swelling and pain. The bone may also ultimately break.

Chondrosarcoma is a long-term debilitating disease because it requires surgery including amputations, and is life-threatening, particularly when the cancer has spread to other parts of the body.

At the time of designation, chondrosarcoma affected less than 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 25,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 27), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 507,700,000 (Eurostat 2011).

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of chondrosarcoma. Some patients were treated with surgery. Radiotherapy (treatment with radiation) and chemotherapy (medicines to treat cancer) were sometimes used if surgery was not possible or the disease had spread to other parts of the body.

This medicine is expected to work by blocking 'the Hedgehog signalling pathway'. This is a mechanism through which embryos control the development of their cells, but it also plays a role in the development of some cells, including cartilage cells in children and adults. When this pathway is disrupted and becomes abnormally active, it can lead to the development of cancers, including chondrosarcoma. The medicine is expected to attach to a protein called 'SMO' which is involved in the Hedgehog signalling pathway. By attaching to SMO, the medicine is expected to block this pathway, thereby slowing down the growth of the cancer cells.

The effects of this medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, one clinical trial with this medicine in patients with chondrosarcoma was ongoing.

At the time of submission, this medicine was not authorised anywhere in the EU for the treatment of chondrosarcoma or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 9 February 2011 recommending the granting of this designation.

• the seriousness of the condition;
• the existence of alternative methods of diagnosis, prevention or treatment;
• either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.

Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.