EU/3/16/1746 - orphan designation for treatment of metaphyseal chondrodysplasia, Schmid type

carbamazepine

Overview

On 14 October 2016, orphan designation (EU/3/16/1746) was granted by the European Commission to University of Newcastle upon Tyne, United Kingdom, for carbamazepine for the treatment of metaphyseal chondrodysplasia, Schmid type.

What is metaphyseal chondrodysplasia, Schmid type?

Metaphyseal chondrodysplasia, Schmid type is an inherited disease of the bone. It is due to mutations (changes) in the genes responsible for making collagen X, a protein important in the development of cartilage and bone. As a result, abnormal forms of collagen X are produced that build up and interfere with bone development. Abnormal development of the bones causes patients to have short arms and legs, bowing of the legs and abnormal gait. Other bones may also be affected and the patient may have hip deformities.

Metaphyseal chondrodysplasia, Schmid type is debilitating in the long term because it causes pain, and hip and knee deformity.

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

At the time of designation, metaphyseal chondrodysplasia, Schmid type affected less than 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 500 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 513,700,000 (Eurostat 2016).

What treatments are available?

At the time of designation, no satisfactory methods were authorised to stop limb deformity or joint pain in patients with metaphyseal chondrodysplasia, Schmid type. Painkillers and physiotherapy were used to relieve symptoms, and bone surgery was used to reduce deformities as they developed.

How is this medicine expected to work?

The way carbamazepine works in metaphyseal chondrodysplasia, Schmid type is not fully clear but it is thought to help the break-down of the abnormal collagen X associated with the condition. By reducing the build-up of abnormal collagen X, carbamazepine is expected to allow some normal bone development and reduce symptoms of the condition.

What is the stage of development of this medicine?

The effects of carbamazepine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with metaphyseal chondrodysplasia, Schmid type had been started.

At the time of submission, carbamazepine was authorised in the EU for epilepsy, pain of trigeminal neuralgia and for preventing manic-depressive psychosis in patients with bipolar disorder. At the time of submission, the medicine was not authorised anywhere in the EU for metaphyseal chondrodysplasia, Schmid type 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 13 September 2016 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.

EU/3/16/1746: Public summary of positive opinion for orphan designation of carbamazepine for the treatment of metaphyseal chondrodysplasia, Schmid type

AdoptedReference Number: EMA/623846/2016

Key facts

• Active substance:
  carbamazepine
• Intended use:
  Treatment of metaphyseal chondrodysplasia, Schmid type
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/16/1746
• Date of designation:
  14/10/2016
• Sponsor:

  University of Newcastle upon Tyne; Kings Gate; Newcastle upon Tyne; NE1 7RU; United Kingdom; Tel. [phone]; Fax [phone]; E-mail: [e-mail]