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Orphan designation

On 21 March 2018, orphan designation (EU/3/18/1992) was granted by the European Commission to argenx BVBA, Belgium, for efgartigimod alfa (also known as ARGX-113) for the treatment of myasthenia gravis.

What is myasthenia gravis?

Myasthenia gravis is a disease that leads to muscle weakness and tiredness. It is an autoimmune disorder in which the immune system (the body’s natural defences) attacks and damages ‘acetylcholine receptors’ on the surface of muscle cells. For a muscle to contract, a substance called acetylcholine is released from a nerve and attaches to the acetylcholine receptors on the muscle cells. In myasthenia gravis, because of the damage to these receptors, the muscles are not able to contract as well as normal. In most patients, the disease is associated with abnormalities of a gland in the chest called the thymus, which is part of the immune system.

In myasthenia gravis, the muscles involved in swallowing and those around the eyes are commonly affected first, causing difficulty in swallowing and the eyelids to drop. Muscle weakness typically worsens towards the end of the day and after exercise.

Myasthenia gravis is a long-term debilitating disease and may be life-threatening when the muscles involved in breathing are affected.

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

At the time of designation, myasthenia gravis affected approximately 2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 103,000 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).

*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 517,400,000 (Eurostat 2018).

What treatments are available?

At the time of designation, a number of medicines were authorised in the EU for the treatment of myasthenia gravis, including acetylcholine esterase inhibitors (medicines that prevent breakdown of acetylcholine) and medicines that work on the immune system. Surgery to remove the thymus gland (thymectomy) was performed in some patients.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with myasthenia gravis. Studies have shown that the medicine, given in addition to standard of care, can reduce the symptoms of the disease.

This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

How is this medicine expected to work?

In patients with myasthenia gravis, the body produces antibodies against the acetylcholine receptors. This medicine works by blocking a protein called FcRn, which attaches to these antibodies and protects them from degradation. Blocking FcRn leads to the degradation of the antibodies that damages the acetylcholine receptors; this is expected to restore the normal contraction of the muscles.

What is the stage of development of this medicine?

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 myasthenia gravis were ongoing.

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

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 15 February 2018 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.

Key facts

Product details for <p>Efgartigimod alfa</p>
Active substanceEfgartigimod alfa
Medicine Name
Disease/conditionTreatment of myasthenia gravis
Date of decision21/03/2018
Orphan decision numberEU/3/18/1992

Review of designation

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

Sponsor's contact details

argenx BVBA
Industriepark Zwijnaarde 7
9052 Gent
Tel. +32 9 310 3400

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • Orphanet, a database containing information on rare diseases which includes a directory of patients’ organisations registered in Europe.
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.