EU/3/20/2299 - orphan designation for treatment of achondroplasia

C-type natriuretic peptide conjugated to multi-arm polyethylene glycol carrier through a cleavable linker

Overview

On 27 July 2020, orphan designation EU/3/20/2299 was granted by the European Commission to Ascendis Pharma Growth Disorders A/S, Denmark, for c-type natriuretic peptide conjugated to multi-arm polyethylene glycol carrier through a cleavable linker for the treatment of achondroplasia.

What is achondroplasia?

Achondroplasia represents the most common form of short-limb dwarfism, a condition where the bones in the arms and legs do not form properly and are shorter than normal. Patients with achondroplasia have a short stature, an enlarged head with a prominent forehead, bowed legs, ear problems, compression of the spinal cord, as well as short fingers, toes, lower legs and upper arms.

Achondroplasia is an inherited disease caused by a mutation (change) in a gene responsible for making a protein called fibroblast growth-factor receptor 3 (FGFR3). Patients who have inherited the defective gene from both parents are the most severely affected and normally die around birth or a few months afterwards. In patients with only one defective FGFR3 gene, achondroplasia causes long-term disability and may result in a shorter life span.

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

At the time of designation, achondroplasia affected approximately 0.6 in 10,000 people in the European Union (EU). This was equivalent to a total of around 30,000 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).

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*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of achondroplasia. Patients were given supportive care, as well as surgery to extend limb length, to correct spinal compression or to correct bowed legs.

How is this medicine expected to work?

The exact way the medicine works is not clear. However early studies indicate that it may inhibit the action of the defective FGFR3 gene, thereby relieving symptoms of the disease.

What is the stage of development of this medicine?

The effects of this medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials in patients with achondroplasia were ongoing.

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

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 18 June 2020, 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.

EU/3/20/2299: Public summary of opinion on orphan designation: C-type natriuretic peptide conjugated to multi-arm polyethylene glycol carrier through a cleavable linker for the treatment of achondroplasia

Adopted Reference Number: EMADOC-628903358-2617

Key facts

• Active substance:
  C-type natriuretic peptide conjugated to multi-arm polyethylene glycol carrier through a cleavable linker
• Intended use:
  Treatment of achondroplasia
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/20/2299
• Date of designation:
  27/07/2020
• Sponsor:

  Ascendis Pharma Endocrinology Division A/S; Tuborg Boulevard 12; 2900 Hellerup ; Hovedstaden; Denmark; Tel: [phone]; E-mail: [e-mail]

Review of designation

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