EU/3/13/1122

On 26 April 2013, orphan designation (EU/3/13/1122) was granted by the European Commission to N-Gene Kutási és Fejlesztesi Kf, Hungary, for R,S-O-(3-piperidino-2-hydroxy-1-propyl)-nicotinic acid amidoxime dihydrochloride for the treatment of Duchenne muscular dystrophy.

The sponsorship was transferred to Vudbenk Life Science Kft., Hungary, in September 2016.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a genetic disease that gradually causes weakness and atrophy (wasting) of the muscles. It mainly affects boys, and usually starts before the age of six years. The muscle weakness usually starts in the hips and legs, before reaching the chest, arms, and sometimes the heart. Patients with DMD lack normal dystrophin, a protein found in muscles. Because this protein helps to strengthen and protect muscles from injury as muscles contract and relax, in patients with DMD the muscles become weak and eventually stop working.

DMD causes long-term disability and is life-threatening because of its effects on the heart and the respiratory muscles (muscles that are used to breathe). The disease usually leads to death in adolescence or early adulthood.

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

At the time of designation, DMD affected approximately 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of approximately 15,000 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. At the time of designation, this represented a population of 512,200,000 (Eurostat 2013).

What treatments are available?

At the time of designation, no satisfactory method had been authorised in the European Union to treat DMD. Treatment of patients with DMD primarily involved physiotherapy and other supportive treatments.

How is this medicine expected to work?

The medicine is a small substance that has been designed to increase the production of a protein called heat-shock protein 72 (Hsp 72). Heat-shock proteins are proteins whose production is increased when the cell is exposed to factors such as stress and inflammation. Hsp 72 protects muscle cells by blocking the production of molecules called cytokines involved in the process of inflammation. In addition, Hsp72 is expected to improve the functioning of a pump in the muscle cells that is responsible for moving calcium into the cells and whose activity is known to be decreased in DMD. By increasing the production of Hsp 72, the medicine is expected to improve muscle strength, thereby slowing down the progression of the disease.

What is the stage of development of this medicine?

The effects of the medicinal product have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with the medicinal product in patients with condition had been started.

At the time of submission, the medicinal product was not authorised anywhere in the EU for DMD 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 March 2013 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.

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.