EU/3/15/1509: Orphan designation for the treatment of spinal muscular atrophy

Spinal muscular atrophy is an inherited disease usually diagnosed in the first year of life that affects the motor neurons (nerves from the brain and spinal cord that control muscle movements). Patients with the disease lack a protein called 'survival motor neuron' (SMN), which is essential for the normal functioning and survival of motor neurons. Without this protein, the motor neurons deteriorate and eventually die. This causes the muscles to fall into disuse, leading to muscle wasting (atrophy) and weakness.

Spinal muscular atrophy is a long-term debilitating and life-threatening disease because it causes breathing problems and paralysis that worsens over time.

At the time of designation, spinal muscular atrophy affected less than 0.4 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 21,000 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 the treatment of spinal muscular atrophy. Patients received supportive treatment to help them and their families cope with the symptoms of the disease. This included chest physiotherapy and physical aids to support muscular function, and ventilators to help with breathing.

This medicine is made of a virus that has been modified to contain the gene for the SMN protein, which is lacking in patients with spinal muscular atrophy. When injected into the patient, the virus is expected to carry the gene into the nerve cells, enabling them to start producing SMN. This is expected to improve the survival and function of the motor neurons, and so preserve muscle function.

The type of virus used in this medicine ('adeno-associated virus') does not cause disease in humans.

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 spinal muscular atrophy were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for spinal muscular atrophy. Orphan designation of the medicine had been granted in the United States for spinal muscular atrophy.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 13 May 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.