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Orphan designation

On 21 March 2018, orphan designation (EU/3/18/1989) was granted by the European Commission to FGK Representative Service GmbH, Germany, for (2S,4R)-1-(2-(3-acetyl-5-(2-methylpyrimidine-5-yl)-1H-indazol-1-yl)acetyl)-N-(6-bromopyridine-2-yl) -4-fluoropyrrolidine-2-carboxamide (also known as ACH-0144471) for the treatment of C3 glomerulopathy.

What is C3 glomerulopathy?

C3 glomerulopathy is a condition in which a protein of the immune system (body’s natural defences) known as C3 builds up in the kidneys, damaging them and impairing their function.

Patients with C3 glomerulopathy usually have signs of kidney problems, such as blood or protein in urine, high blood pressure, blurred vision and swelling in the hands and feet.

C3 glomerulopathy is life threatening and debilitating in the long term because it can lead to kidney failure.

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

At the time of designation, C3 glomerulopathy affected approximately 1.1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 57,000 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 orphan designation, no satisfactory treatments were authorised in the EU for C3 glomerulopathy. Because the disease involves the body’s immune system, immunosuppressant medicines (that reduce the activity of the immune system) were usually used. Other treatments included plasmapheresis (a procedure to remove unwanted substances from plasma, the liquid part of the blood), infusion of healthy plasma, and medicines to reduce blood pressure and protein in the urine. Some patients developing end-stage kidney disease received dialysis and kidney transplantation.

How is this medicine expected to work?

The damaging build-up of the C3 protein in kidneys of patients with C3 glomerulopathy mostly results from overactivity of an enzyme called C3 convertase. This medicine blocks another protein called factor D, which is involved in the production of C3 convertase. By blocking factor D and hence production of C3 convertase, the medicine is expected to reduce the build-up of the C3 protein and relieve the symptoms of the disease.

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 C3 glomerulopathy were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for C3 glomerulopathy 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 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>(2S,4R)-1-(2-(3-acetyl-5-(2-methylpyrimidine-5-yl)-1H-indazol-1-yl)acetyl)-N-(6-bromopyridine-2-yl)-4-fluoropyrrolidine-2-carboxamide</p>
Active substance(2S,4R)-1-(2-(3-acetyl-5-(2-methylpyrimidine-5-yl)-1H-indazol-1-yl)acetyl)-N-(6-bromopyridine-2-yl)-4-fluoropyrrolidine-2-carboxamide
Medicine Name
Disease/conditionTreatment of C3 glomerulopathy
Date of decision21/03/2018
Orphan decision numberEU/3/18/1989

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

FGK Representative Service GmbH
Heimeranstrasse 35      
80339 Munich
Tel. + 49 89 893 119 22

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.