EU/3/20/2323 - orphan designation for treatment of mucopolysaccharidosis type III (Sanfilippo syndrome)
trehalose
OrphanHuman
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Overview
On 21 August 2020, orphan designation EU/3/20/2323 was granted by the European Commission to FGK Representative Service GmbH, Germany, for trehalose for the treatment of mucopolysaccharidosis type III.
Mucopolysaccharidosis type III (also known as Sanfilippo syndrome) is an inherited disease caused by the deficiency of one of four enzymes that break down substances in the body called glycosaminoglycans (GAGs). If one of these enzymes is not present or does not work well, GAGs cannot be broken down and they build up in the cells, particularly in the brain, and damage them. This causes a wide range of symptoms, including behavioural problems, learning disabilities and eventually patients’ ability to walk. The disease is usually diagnosed in children between two and six years of age.
Mucopolysaccharidosis type III is a seriously debilitating and life-threatening disease that progresses to serious mental disability. The disease usually leads to death during adolescence or early adulthood.
At the time of designation, mucopolysaccharidosis type III affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 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).
*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).
At the time of designation, no satisfactory methods were authorised in the EU for treating mucopolysaccharidosis type III. Patients received supportive treatment to relieve the symptoms of the disease.
The way trehalose works in patients with mucopolysaccharidosis type III is not fully understood. It is expected that it reduces storage of GAGs, thereby relieving the symptoms of the disease.
The effects of trehalose have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with trehalose in patients with mucopolysaccharidosis III were ongoing.
At the time of submission, trehalose was not authorised anywhere in the EU for mucopolysaccharidosis III. Orphan designation of trehalose had been granted in the United States for this condition.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 16 July 2020, 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
- trehalose
- Intended use
- Treatment of mucopolysaccharidosis type III (Sanfilippo syndrome)
- Orphan designation status
- Positive
- EU designation number
- EU/3/20/2323
- Date of designation
- Sponsor
FGK Representative Service GmbH
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
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: