On 10 June 2014, orphan designation (EU/3/14/1280) was granted by the European Commission to Cochamo Systems Ltd, United Kingdom, for autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene for the treatment of mucopolysaccharidosis IIIA (Sanfilippo A syndrome).
The sponsorship was transferred to Orchard Therapeutics Ltd, United Kingdom, in August 2017.
The sponsorship was transferred to Orchard Therapeutics (Netherlands) B.V., Netherlands, in March 2019.
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 approximately 0.032 in 10,000 people in the European Union (EU). This was equivalent to a total of around 2,000 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 511,100,000 (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.
The medicine is made up immature bone marrow cells (called CD34+) taken from the patient. These cells are able to develop into different types of immune cells. To make this medicine, the cells are modified by a virus containing the gene for the SGSH enzyme, which is lacking in patients with mucopolysaccharidosis type IIIA, resulting in the gene being introduced into the cells. When these modified cells are transplanted back into the patient, they are expected to produce the missing enzyme throughout the body, so that it can break down the accumulated heparan sulphate and help to relieve the symptoms of the disease.
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 IIIA had been started.
At the time of submission, the 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 9 April 2014 recommending the granting of this designation.
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.
Orchard Therapeutics (Netherlands) B.V.
Basisweg 10
Noord-Holland
1043 AP Amsterdam
Netherlands
E-mail: regulatory@orchard-tx.com
| DATE | Update |
|---|---|
| July 2022 | The sponsor's address was updated in July 2022. |
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
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.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: