EU/3/18/2124: Orphan designation for the treatment of ataxia telangiectasia

Ataxia telangiectasia is an inherited disorder that affects parts of the brain, leading to an increasing inability to control movements (ataxia), speech problems and difficulty moving the eyes from side to side. The disorder also affects the immune system (the body’s natural defences), increasing patients' risk of infections and certain blood cancers. Patients may also have telangiectasias, which are clusters of dilated blood vessels, which may occur in the white of the eyes.

Ataxia telangiectasia is a debilitating and life-threatening disease because of the worsening of symptoms over time and increased risk of infections and cancers.

At the time of designation, ataxia telangiectasia affected less than 0.25 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 13,000 people¹, 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).

¹Disclaimer: 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 517,400,000 (Eurostat 2018).

At the time of designation, there was no satisfactory treatment for ataxia telangiectasia authorised in the EU. Patients generally received speech therapy, physiotherapy and treatment for infections and other complications.

The way acetylleucine works in ataxia telangiectasia is not clear but it is thought to stabilise nerve cells responsible for balance and for coordinating movement. This is expected to improve movement control and coordination in patients with the disease.

The effects of acetylleucine have been evaluated in experimental models.

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

At the time of submission, acetylleucine was not authorised anywhere in the EU for ataxia telangiectasia 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 6 December 2018 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.