EU/3/21/2560 - orphan designation for treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

posnafusp alfa
OrphanHuman

Overview

This medicine was designated as an orphan medicine for the treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) 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:

Patients with mucopolysaccharidosis IIIA have genetic mutations that result in a deficiency or absence of the enzyme SGSH, leading to the accumulation of heparan sulfate and damage of the cells. The medicine, also known as JR-441, comprises a normal copy of SGSH. It is also attached to a monoclonal antibody that allows the medicine to cross the blood-brain barrier, and reach the brain. 

The medicine is expected to reduce the accumulation of heparan sulfate, both in the peripheral tissues and in the brain, reducing the symptoms of the disease, including neurological symptoms.

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

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

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:

Key facts

Active substance
posnafusp alfa
Intended use
Treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Orphan designation status
Positive
EU designation number
EU/3/21/2560
Date of designation
Sponsor

JCR Europe B.V.

Update history

DateUpdate
April 2025The sponsorship was transferred from Artemida Pharma Europe Limited to JCR Europe B.V. in April 2025.

EMA list of opinions on orphan medicinal product designation

EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.

EU register of orphan medicines

The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:

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