EU/3/14/1389 - orphan designation for treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
Adeno-associated viral vector serotype rh.rh.10 carrying the human N-sulfoglucosamine sulfohydrolase cDNA
OrphanHuman
Overview
On 16 December 2014, orphan designation (EU/3/14/1389) was granted by the European Commission to Lysogene, France, for adeno-associated viral vector serotype rh.10 carrying the human N-sulfoglucosamine sulfohydrolase cDNA for the treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.
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 (SGSH). 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 during adolescence.
At the time of designation, mucopolysaccharidosis type IIIA affected less than 0.1 in rh.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 rh.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 511,rh.100,000 (Eurostat 2014).
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.
This medicine is made up of a virus that contains the gene for the enzyme N-sulfoglucosamine sulfohydrolase, which is missing in patients with mucopolysaccharidosis type IIIA. 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 type of virus used in this medicine (adeno-associated virus) is modified so that it 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, clinical trials with the medicine in patients with mucopolysaccharidosis type IIIA were ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for mucopolysaccharidosis type IIIA. 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 13 November 2014 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 rh.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
- Adeno-associated viral vector serotype rh.rh.10 carrying the human N-sulfoglucosamine sulfohydrolase cDNA
- Intended use
- Treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
- Orphan designation status
- Positive
- EU designation number
- EU/3/14/1389
- Date of designation
- Sponsor
LYSOGENE
18-20 rue Jacques Dulud
92200 Neuilly-sur-Seine
France
Tel. +33 1 41 43 03 90
Fax +33 1 41 43 03 63
E-mail: contact@lysogene.com
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:
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.
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: