EU/3/22/2663 - orphan designation for treatment of maple syrup urine disease

sodium phenylbutyrate

Overview

This medicine was designated as an orphan medicine for the treatment of maple syrup urine disease in the European Union on 18 July 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

Maple syrup urine disease (MSUD) is a severe inborn disease in which the body cannot process certain amino acids (molecules that make up proteins) because of an error in the so-called branched-chain alpha-ketoacid dehydrogenase enzyme complex (BCKDC). When left untreated, MSUD increases concentrations of these amino acids in blood plasma, which can lead to chronic and acute neurological damage ranging from developmental delays in children to seizures, cognitive challenges, and, in some cases, death.

This medicine is expected to affect how the BCKDC enzyme works, thereby reducing the plasma levels of amino acids.

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:

• No clinical trials with the medicine in patients with Maple syrup urine disease 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

Key facts

• Active substance:
  sodium phenylbutyrate
• Intended use:
  Treatment of maple syrup urine disease
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/22/2663
• Date of designation:
  18/07/2022
• Sponsor:

  Renantos Pharmavertriebsgesellschaft mbH; Spielmannsgasse 12; Weststadt; 89077 Ulm; Baden-Wuerttemberg; Germany; E-mail: [e-mail]