EU/3/15/1533: Orphan designation for the treatment of osteogenesis imperfecta

Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. People with the condition have a low bone mass, which causes bones to break easily, often from mild trauma. Other symptoms may include deformity, short stature, large head size (macrocephaly), hearing loss, problems with teeth development, as well as brain and lung complications.

Osteogenesis imperfecta is a seriously debilitating disease due to fragile bones, multiple fractures and deformities, which may cause pain and restriction of daily activities.

At the time of designation, osteogenesis imperfecta affected approximately 1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 51,000 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 28), Norway, Iceland and Liechtenstein. This represents a population of 512,900,000 (Eurostat 2015).

At the time of designation, no satisfactory methods were authorised in the EU for treating osteogenesis imperfecta. Patients were given supportive treatments such as physiotherapy, bracing and surgery to manage the symptoms of the disease.

This medicine is an advanced medicinal product that belongs to the group called 'tissue engineered products'. These are medicines that contain cells or tissues that have been 'engineered' (modified) so they can be used to repair, regenerate or replace tissue.

The medicine is made up of healthy bone-forming cells (osteoblasts) produced from cells known as stem cells taken from the bone marrow of a healthy donor. Once implanted into the patient's bone, the cells are expected to replace the damaged bone tissue thereby relieving the symptoms of the disease.

The effects of the medicine 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 osteogenesis imperfecta had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for osteogenesis imperfecta. Orphan designation of the medicine had been granted in the European Union and in the United States for the treatment of osteonecrosis (death of bone tissue).

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 16 July 2015 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.