EU/3/22/2724 - orphan designation for treatment of myotonic disorders

16-base single stranded RNA targeting miR-23b linked to oleic acid

Overview

This medicine was designated as an orphan medicine for the treatment of myotonic disorders 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, also known as ATX-01, belongs to the class of: MicroRNA inhibitors.

Myotonic dystrophy type 1 (DM1) is an inherited disease caused by mutations in the DMPK gene and characterised by myotonia (when muscles have trouble relaxing after voluntary contraction). Symptoms include muscle stiffness and weakness, pain, fatigue and heart problems. DMPK mutations result in the sequestration of MBNL, a protein which regulates the production of other proteins. Increased levels of miR-23b (a microRNA) play a key role in suppressing MBNL function in people with DM1.

ATX-01 is a short RNA that binds to miR-23b, preventing its repressing action on MBNL and increasing MBNL production, as well as reducing toxic DMPK foci seen in the disease, releasing MBNL sequestered in the foci. These actions allow MBNL to perform its usual role.

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 myotonic disorders 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:
  16-base single stranded RNA targeting miR-23b linked to oleic acid
• Intended use:
  Treatment of myotonic disorders
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/22/2724
• Date of designation:
  09/12/2022
• Sponsor:

  Arthex Biotech S.L.; Catedratico Agustin Escardino 9; 46980 Paterna; Valencia; Spain; E-mail: [e-mail]