EU/3/21/2505: Orphan designation for the treatment of mucopolysaccharidosis type I

Patients with mucopolysaccharidosis type I lack an enzyme called alpha-L-iduronidase which breaks down substances in the body called glycosaminoglycans (GAGs). As a consequence, GAGs build up in various organs in the body and damage them. The medicine, also known as SIG-005 spheres, contain human cells genetically modified to produce a human native alpha-L-iduronidase (hIDUA). SIG-005 cells are contained in small spheres about the size of the tip of a ballpoint pen. The spheres are made of alginate, a natural biomaterial found in seaweed. Alginates form a protective shielding around the cells guarding them from immune system detection and keeping cells intact in the body for long term. SIG-005 spheres are placed into the belly using a type of surgery that minimises surgical incisions, where they have therapeutic effect by continuously producing hIDUA into the blood.

Based on description provided by sponsor

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 mucopolysaccharidosis type I had been started.

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 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