EU/3/12/980

On 2 April 2012, orphan designation (EU/3/12/980) was granted by the European Commission to Axcentua Pharmaceuticals AB, Sweden, for genistein sodium salt dihydrate for the treatment of mucopolysaccharidosis type III (Sanfilippo syndrome).

What is mucopolysaccharidosis type III?

Mucopolysaccharidosis type III (also known as Sanfilippo syndrome) is an inherited disease caused by the lack of one of the enzymes involved in breaking down some substances in the body called glucosaminoglycans or GAGs (long chains of sugar molecules which are part of many tissues in the body). Because patients with mucopolysaccharidosis type III cannot break these substances down, they gradually build up in cells in the body, particularly in the brain, and cause irreversible damage. This causes a wide range of symptoms, including behavioural problems, learning disabilities, difficulty moving and sleep disturbances. The disease typically starts in children between two and six years of age.

Mucopolysaccharidosis type III is a seriously debilitating and life-threatening disease because it leads to poor development of language skills and movement, hyperactivity and slow general development. The disease usually results in death during adolescence.

What is the estimated number of patients affected by the condition?

At the time of designation, mucopolysaccharidosis type III affected approximately 0.03 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 1,500 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 27), Norway, Iceland and Liechtenstein. This represents a population of 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of designation, no satisfactory treatments were authorised in the EU for mucopolysaccharidosis type III.

How is this medicine expected to work?

Genistein sodium salt dihydrate is expected to prevent the accumulation of GAGs by stopping their production. It is expected to do so by blocking some receptors called ‘protein tyrosine kinase receptors’, which are thought to be involved in producing the enzymes that make GAGs. This is expected to result in a reduction of GAGs’ deposits inside cells, thus improving the symptoms of the disease.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.

At the time of submission, no clinical trials with the medicine in patients with mucopolysaccharidosis type III were ongoing.

At the time of submission genistein sodium salt dihydrate was not authorised anywhere in the EU for mucopolysaccharidosis type III or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 8 February 2012 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria

• 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.

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.