EU/3/18/2122 - orphan designation for treatment of autosomal dominant polycystic kidney disease

Venglustat

Overview

On 14 December 2018, orphan designation (EU/3/18/2122) was granted by the European Commission to Genzyme Europe BV, the Netherlands, for venglustat for treatment of autosomal dominant polycystic kidney disease.

Please note that this product was withdrawn from the Union Register of orphan medicinal products in October 2021 on request of the Sponsor.

What is autosomal dominant polycystic kidney disease?

Polycystic kidney disease is an inherited condition marked by the growth of numerous fluid-filled cysts mainly in the kidneys. The growth of cysts eventually affects kidney function and can cause the kidneys to fail. Symptoms include abdominal (belly) pain, problems with urinating, high blood pressure and infection.

In most cases, polycystic kidney disease is 'autosomal dominant', which means that it is caused by gene mutations (changes) that are 'dominant' because a person can have the disease even if only one parent has passed on the mutated gene. Autosomal dominant polycystic kidney disease is caused by a mutation of either of two genes, PKD1 and PKD2.

Autosomal dominant polycystic kidney disease is debilitating in the long term and life threatening because patients can develop kidney failure and also problems in other organs such as the heart and the gut.

What is the estimated number of patients affected by autosomal dominant polycystic kidney disease?

At the time of designation, orphan autosomal dominant polycystic kidney disease affected approximately 4.7 in 10,000 people in the European Union (EU). This was equivalent to a total of around 243,000 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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*Disclaimer: For the purpose of the designation, the number of patients affected by the autosomal dominant polycystic kidney 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, Jinarc (tolvaptan) was authorised in the EU for the treatment of autosomal dominant polycystic kidney disease.

The sponsor has provided sufficient information to show that venglustat might be of significant benefit for patients with autosomal dominant polycystic kidney disease. Early data indicate that the medicine may have beneficial effects in patients who cannot take tolvaptan. 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?

Venglustat is expected to work in autosomal dominant polycystic kidney disease by blocking the production of certain fatty substances called glycosphingolipid. An excess of these fatty substances in cells is thought to contribute to the formation of cysts. By blocking the production of these substances, venglustat is expected to reduce the formation of cysts in the kidney and also in the liver. This is expected to improve the symptoms of the disease.

What is the stage of development of this medicine?

The effects of venglustat have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with venglustat in patients with autosomal dominant polycystic kidney disease were ongoing.

At the time of submission, venglustat was not authorised anywhere in the EU for autosomal dominant polycystic kidney disease 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 8 November 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.

EU/3/18/2122: Public summary of opinion on orphan designation: Venglustat for treatment of autosomal dominant polycystic kidney disease

AdoptedReference Number: EMA/840293/2018

Key facts

• Active substance:
  Venglustat
• Intended use:
  Treatment of autosomal dominant polycystic kidney disease
• Orphan designation status:
  Withdrawn
• EU designation number:
  EU/3/18/2122
• Date of designation:
  14/12/2018
• Sponsor:

  Genzyme Europe B.V.; Paasheuvelweg 25; 1105 BP Amsterdam; The Nederlands; 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.