EU/3/15/1502

Spinocerebellar ataxia is a condition characterised by progressive problems with movement, coordination and balance (ataxia). There are different types of spinocerebellar ataxia, and depending on the type, people may develop different signs and symptoms, such as speech and swallowing difficulties, muscle stiffness, weakness in the muscles that control eye movement and cognitive (mental) impairment.

Spinocerebellar ataxia is a long-term debilitating condition involving progressive slowing of gait, often associated with poor coordination of speech, hands and eye movement.

At the time of designation, spinocerebellar ataxia affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 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 spinocerebellar ataxia. Patients were mainly given supportive treatment aimed at easing the symptoms of the disease.

This medicine is made up of trehalose, a type of sugar which can stabilise proteins and stop them from sticking together. Patients with spinocerebellar ataxia produce abnormal proteins which can stick together and form deposits that cause death of nerve cells. In spinocerebellar ataxia, trehalose is expected to help prevent abnormal proteins from forming deposits, thereby reducing the damage to cells and the symptoms of the disease.

The effects of trehalose have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with trehalose in patients with spinocerebellar ataxia had been started.

At the time of submission, trehalose was not authorised anywhere in the EU for spinocerebellar ataxia. Orphan designation of the medicine had been granted in the United States for spinocerebellar ataxia type 3.

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.