EU/3/21/2558 - orphan designation for treatment of glycogen storage disease type Ia

mRNA encoding human glucose-6-phosphatase variant S298C

Overview

This medicine was designated as an orphan medicine for the treatment of glycogen storage disease type Ia in the European Union on 14 January 2022.

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

Patients with glycogen storage disease type Ia lack an enzyme called glucose-6-phosphatase-?, normally found mainly in the liver and kidneys, that is needed for the body to store and handle sugars correctly. The medicine contains a molecule called messenger RNA (mRNA) which has instructions for making the enzyme. The mRNA is contained in tiny particles of fats (lipids) that prevent it from being broken down too quickly. When a patient is given the medicine, some of their cells will read the mRNA instructions and temporarily produce the enzyme. This is expected to normalise the storage and management of sugars in the body and reduce the symptoms of the condition. The mRNA from the medicine does not stay in the body but is broken down shortly after the medicine is given.

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 Ia 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, if such a method exists, 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 on 7-9 December 2021

Adopted Reference Number: EMA/COMP/778269/2021

Key facts

• Active substance:
  mRNA encoding human glucose-6-phosphatase variant S298C
• Intended use:
  treatment of glycogen storage disease type Ia
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/21/2558
• Date of designation:
  14/01/2022
• Sponsor:

  Moderna Biotech Spain S.L.; Calle Del Principe De Vergara 132 Plt 12; 28002 Madrid; Spain; E-mail: [e-mail]