EU/3/22/2736 - orphan designation for treatment of ornithine transcarbamylase deficiency

adeno-associated virus serotype rh79 containing the human OTC gene, adeno-associated virus serotype rh79 encoding a meganuclease for targeted editing of the human PCSK9 gene

Overview

This medicine was designated as an orphan medicine for the treatment of ornithine transcarbamylase deficiency in the European Union on 9 December 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

This medicine is designed to incorporate the OTC gene in the patient’s liver cells. This gene encodes for ornithine transcarbamylase, an enzyme that is missing in patients with this condition. The medicine comprises of two main components, one that contains the OTC gene itself and one that contains genetic material for making an enzyme that will incorporate the OTC gene in a specific place into the DNA of the liver cells. This is expected to enable liver cells to produce ornithine transcarbamylase and to reduce the symptoms caused by its deficiency.

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 evaluation of the effects of the medicine in experimental models was ongoing.
• No clinical trials with the medicine in patients with ornithine transcarbamylase deficiency 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 8-10 November 2022

Adopted Reference Number: EMA/COMP/897858/2022 Rev.1

Key facts

• Active substance:
  adeno-associated virus serotype rh79 containing the human OTC gene, adeno-associated virus serotype rh79 encoding a meganuclease for targeted editing of the human PCSK9 gene
• Intended use:
  Treatment of ornithine transcarbamylase deficiency
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/22/2736
• Date of designation:
  09/12/2022
• Sponsor:

  Pharma Gateway AB;