EU/3/15/1573 - orphan designation for treatment of Wilson's disease
adeno-associated viral vector serotype 8 encoding the human ATP7B gene under the control of the human alpha-1 antitrypsin promoter
OrphanHuman
Overview
On 11 November 2015, orphan designation (EU/3/15/1573) was granted by the European Commission to Aligen Therapeutics S.L., Spain, for adeno-associated viral vector serotype 8 encoding the human ATP7B gene under the control of the human alpha-1 antitrypsin promoter for the treatment of Wilson's disease.
Wilson's disease is a genetic disorder that causes copper absorbed from food to accumulate in the body. In healthy people, liver cells remove most of the excess copper and release it into the bile, which flows into the intestines. In people with Wilson's disease, due to a genetic mutation (change), the liver cannot remove copper and the copper builds up in the liver and in other organs such as the kidneys, brain and eyes, and damages them.
Wilson's disease is chronically debilitating and can be life threatening if not treated due to the toxicity of copper in the liver and brain.
At the time of designation, Wilson's disease affected approximately 0.6 in 10,000 people in the European Union (EU). This was equivalent to a total of around 31,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased 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 512,900,000 (Eurostat 2015).
At the time of designation, several medicines were authorised in the EU for the treatment of Wilson's disease. Penicillamine and trientine were used to remove excess copper from the body and to limit the absorption of copper from food. Trientine was authorised for patients who cannot take penicillamine, but it was authorised in one EU country only. Zinc, which reduces the absorption of copper from food, was also authorised for Wilson's disease.
The sponsor has provided sufficient information to show that the medicine, adeno-associated viral vector serotype 8 encoding the human ATP7B gene under the control of the human alpha-1 antitrypsin promoter, might be of significant benefit for patients with Wilson's disease because it is expected to work in a different way to existing treatments to correct the underlying problem with the way the liver removes copper from the body. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Because of a genetic mutation, in patients with Wilson's disease a protein in liver cells called ATP7B does not work properly. As a result, the liver cannot remove copper.
The medicine is made of a virus that has been modified to contain normal copies of the gene for the ATP7B protein. After being given to the patient as an injection into a vein, the virus is expected to carry the ATP7B gene into the liver cells, enabling them to produce a functional protein. This is expected to correct how the body handles copper.
The type of virus used in this medicine ('adeno-associated virus') 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, no clinical trials with the medicine in patients with Wilson's disease had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for Wilson's disease 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 October 2015 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
- adeno-associated viral vector serotype 8 encoding the human ATP7B gene under the control of the human alpha-1 antitrypsin promoter
- Intended use
- Treatment of Wilson's disease
- Orphan designation status
- Positive
- EU designation number
- EU/3/15/1573
- Date of designation
- Sponsor
Aligen Therapeutics S.L.
C/ Av. Pío XII 55
31008 Pamplona
Spain
Tel. +34 948 194 700
Fax +34 948 194 700
E-mail: jmhernandez@unav.es
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: