EU/3/14/1350

On 15 October 2014, orphan designation (EU/3/14/1350) was granted by the European Commission to Novartis Europharm Limited, United Kingdom, for recombinant human monoclonal antibody of the IgG1 kappa class against human macrophage colony-stimulating factor for the treatment of tenosynovial giant cell tumour, localised and diffuse type.

What is tenosynovial giant cell tumour, localised and diffused type?

Tenosynovial giant cell tumour is a condition where the tissue surrounding the joints and tendons, called the synovial lining or synovium, expands abnormally forming outgrowths of the joint. It is known as ‘diffuse’ if the entire synovium is affected, or ‘localised’ if only a section of the synovium is affected. It usually affects the hand joint of young adults and is characterised by pain, swelling and stiffness of the joint.

Tenosynovial giant cell tumour is a long-term debilitating disease because it causes the destruction of joints.

What is the estimated number of patients affected by the condition?

At the time of designation, tenosynovial giant cell tumour, localised and diffuse type, affected not more than 2 in 10,000 people in the European Union (EU). This was equivalent to a total of not more than 102,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

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*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 28), Norway, Iceland and Liechtenstein. This represents a population of 511,100,000 (Eurostat 2014).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of tenosynovial giant cell tumour and treatment consisted of surgery.

How is this medicine expected to work?

The medicine contains a monoclonal antibody (a type of protein) that has been designed to recognise and attach to a protein called macrophage colony-stimulating factor (MCSF). MCSF is produced in large amounts by tenosynovial giant cell tumour cells, where it stimulates immune cells called macrophages to accumulate in the joints and cause the outgrowths. By attaching to MCSF the medicine is expected to block its activity, preventing tumour growth and helping to delay the onset of the symptoms of the disease.

What is the stage of development of this medicine?

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

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with tenosynovial giant cell tumour, localised and diffuse were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for tenosynovial giant cell tumour, localised and diffuse 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 4 September 2014 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria:

• 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.