EU/3/21/2472 - orphan designation for treatment of glycogen storage disease type III

mRNA encoding the human glycogen debranching enzyme

Overview

This medicine was designated as an orphan medicine for the treatment of glycogen storage disease type III in the European Union on 19 July 2021.

This means that the developer will receive scientific and regulatory support from EMA to advance their medicine to the stage where they can apply for a marketing authorisation.

Orphan designation does not mean the medicine is available or authorised for use. All medicines, including designated orphan medicines, must be authorised before they can be marketed and made available to patients in the EU.

During the medicine's development, doctors may be able to enrol patients in clinical trials investigating the medicine. For information on ongoing clinical trials in the EU, see:

• EU Clinical Trials Register

• ClinicalTrials.gov

How the medicine is expected to work

Glycogen, which is made from long branched chains of a sugar called glucose, is a way the body stores energy in the liver and muscles. Patients with glycogen storage disease type III do not have the functional glycogen debranching enzyme (GDE) that breaks glycogen down to glucose. This causes too much glycogen to build up in the liver, heart, and muscle, causing damage to these organs. It can also lead to dangerously low blood sugar.

This medicine is made of chemical instructions (in the form of messenger RNA, or mRNA) for the body to make the missing functional glycogen debranching enzyme. The mRNA is packaged inside in tiny fatty particles that protect it and help it enter the organs. The medicine is given in a vein (IV). Because the mRNA doesn’t last long, the medicine would need to be given on a regular schedule for the patient’s body to keep making the missing enzyme.

Based on description provided by sponsor

Stage of development at time of orphan designation

At the time of submission of the application for orphan designation:

• The effects of the medicine had been evaluated in experimental models.

• No clinical trials with the medicine in patients with glycogen storage disease type III had been started.

More information on how potential new medicines are tested during their development is available on Authorisation of medicines.

About orphan designation

Medicines intended for rare diseases can be granted an orphan designation during their development.

The orphan designation allows the developer to benefit from:

• scientific and regulatory support to advance their medicine to the stage where they can request marketing authorisation;

• market exclusivity once the medicine is on the market.

To qualify for orphan designation, a medicine must meet a number of criteria:

• it must be intended for the treatment, prevention or diagnosis of a disease that is life-threatening or chronically debilitating;

• the prevalence of the condition in the EU must not be more than 5 in 10,000 or it must be unlikely that marketing of the medicine would generate sufficient returns to justify the investment needed for its development;

• there are no satisfactory alternative methods for the diagnosis, prevention or treatment of the condition or the medicine is of significant benefit to those affected by the condition.

EMA's Committee for Orphan Medicinal Products (COMP) is responsible for issuing opinions on applications for orphan designations.

The Agency sends the COMP opinion to the European Commission, which is responsible for granting the orphan designation. The full list of orphan designations is available in the Community register of orphan medicinal products for human use.

For more information, see:

• Orphan designation: Overview

• Rare diseases, orphan medicines - Getting the facts straight

Minutes of the COMP meeting 15-17 June 2021

AdoptedReference Number: EMA/COMP/359170/2021

Key facts

• Active substance:
  mRNA encoding the human glycogen debranching enzyme
• Intended use:
  Treatment of glycogen storage disease type III
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/21/2472
• Date of designation:
  19/07/2021
• Sponsor:

  Ultragenyx Germany GmbH;