On 20 September 2010, orphan designation (EU/3/10/772) was granted by the European Commission to Sanfilippo Therapeutics SAS, France, for adenovirus-associated viral vector serotype 10 carrying the human N-sulfoglucosamine sulfohydrolase and sulfatase modifying factor 1 cDNAs for the treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
- What is mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)?
Mucopolysaccharidosis type IIIA (also known as Sanfilippo A syndrome) is an inherited disease that is caused by the lack of an enzyme called N-sulfoglucosamine sulfohydrolase. This enzyme is needed to break down a substance in the body called heparan sulphate. Because patients with mucopolysaccharidosis type IIIA 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, difficulty moving and sleep disturbances. The disease is usually diagnosed in children between two and six years of age.
Mucopolysaccharidosis type IIIA is a seriously debilitating and life-threatening disease because it leads to poor development of language skills and movement, hyperactivity and slow development. The disease usually leads to death while the patients are adolescents.
- What is the estimated number of patients affected by the condition?
At the time of designation, mucopolysaccharidosis type IIIA affected less than 0.03 in 10,000 people in the European Union (EU)*. This is equivalent to a total of less than 2,000 people, and is below the threshold 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 506,500,000 (Eurostat 2010).
- What treatments are available?
At the time of designation, no satisfactory methods were authorised in the EU for treating mucopolysaccharidosis type IIIA. Bone marrow transplantation had been used to try to slow down the progression of the disease.
- How is this medicine expected to work?
Adenovirus-associated viral vector serotype 10 carrying the human N-sulfoglycosamine sulphohydrolase and sulfatase modifying factor 1 cDNAs is an advanced therapy medicine that belongs to the group called ‘gene therapy products’. These are medicines that work by delivering genes into the body.
The medicine is made up of a virus that contains the gene for the missing enzyme N-sulfoglucosamine sulfohydrolase. When it is injected directly into the brain, the virus is expected to carry the gene into the brain cells. These cells will then be able to produce the missing enzyme so that it can break down the accumulated heparan sulphate and help to relieve the symptoms of the disease. The medicine also contains the gene for ‘sulfatase modifying factor 1’, which is needed to activate N-sulfoglucosamine sulfohydrolase.
The type of virus used in this medicine (adenovirus) is modified so that it does not cause disease in humans.
- 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 this medicine in experimental models was ongoing.
At the time of submission, no clinical trials with the medicine in patients with mucopolysaccharidosis type IIIA had been started.
At the time of submission, this medicine was not authorised anywhere in the EU for mucopolysaccharidosis type IIIA 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 2 June 2010 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.
|Name||Language||First published||Last updated|
|EU/3/10/772: Public summary of opinion on orphan designation: Adenovirus-associated viral vector serotype 10 carrying the human N-sulfoglucosamine sulfohydrolase and sulfatase modifying factor 1 cDNAs for the treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)||(English only)||18/10/2010||28/06/2012|
|Active substance||Adenovirus-associated viral vector serotype 10 carrying the human N-sulfoglucosamine sulfohydrolase and sulfatase modifying factor 1 cDNAs|
|Disease/condition||Treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)|
|Date of decision||20/09/2010|
|Orphan decision number||EU/3/10/772|
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Sponsor’s contact details:
52 rue de la Boetie
Telephone: + 33 1 56 88 52 86
Telefax: + 33 1 56 88 52 81
For contact details of patients’ organisations whose activities are targeted at rare diseases see:
- Orphanet, a database containing information on rare diseases which includes a directory of patients’ organisations registered in Europe.
- European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.