EU/3/16/1825 - orphan designation for treatment of mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)
recombinant adeno-associated viral vector serotype 9 containing the human N-alpha-acetylglucosaminidase gene
OrphanHuman
Overview
On 12 January 2017, orphan designation (EU/3/16/1825) was granted by the European Commission to Ser-mes Planificación SL, Spain, for recombinant adeno-associated viral vector serotype 9 containing the human N-alpha-acetylglucosaminidase gene for the treatment of mucopolysaccharidosis type IIIB (Sanfilippo B syndrome).
Mucopolysaccharidosis type IIIB (also known as Sanfilippo B syndrome) is a genetic disease that is caused by the lack of an enzyme called N-alpha-acetylglucosaminidase. This enzyme is needed to break down a substance in the body called heparan sulphate. Because patients with mucopolysaccharidosis type IIIB cannot break this substance down, it gradually builds up in cells in the body, particularly in the brain, and damages them. This causes a wide range of symptoms, including behavioural problems, learning disabilities and sleep disturbances. The disease is usually diagnosed in children between two and six years of age.
Mucopolysaccharidosis type IIIB is a seriously debilitating and life-threatening disease that progress to serious mental disability. The disease usually leads to death during adolescence or early adulthood.
At the time of designation, mucopolysaccharidosis type IIIB affected less than 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 5,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).
*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 513,700,000 (Eurostat 2016).
At the time of designation, no satisfactory methods were authorised in the EU for treating mucopolysaccharidosis type IIIB. Patients received supportive treatment to temporarily relieve the symptoms of the disease.
This medicine is made of a virus that has been modified to contain a copy of the gene for N-alpha-acetylglucosaminidase, the enzyme that is lacking in patients with mucopolysaccharidosis type IIIB. When injected into the patient, the virus is expected to carry the gene into the cells, including the nerve cells of the brain, enabling them to start producing the enzyme. As a result the cells will be able to break down the accumulated heparan sulphate, thereby helping to relieve the symptoms of the disease.
The virus used in this medicine ('adeno-associated virus') does not cause disease in humans.
The effects of the medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with mucopolysaccharidosis type IIIB had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for mucopolysaccharidosis type IIIB. Orphan designation of the medicine had been granted in the United States for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 8 December 2016 recommending the granting of this designation.
- the seriousness of the condition;
- the existence of alternative methods of diagnosis, prevention or treatment;
- either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.
Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.
Key facts
- Active substance
- recombinant adeno-associated viral vector serotype 9 containing the human N-alpha-acetylglucosaminidase gene
- Medicine name
- -
- Intended use
- Treatment of mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)
- Orphan designation status
- Positive
- EU designation number
- EU/3/16/1825
- Date of designation
- Sponsor
Pharma Gateway AB
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Update history
| Date | Update |
|---|---|
| June 2024 | The sponsorship was transferred to Pharma Gateway AB |
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: