EU/3/17/1944 - orphan designation for treatment of Duchenne muscular dystrophy
Tamoxifen citrate
OrphanHuman
Overview
On 12 October 2017, orphan designation (EU/3/17/1944) was granted by the European Commission to Duchenne UK, United Kingdom, for tamoxifen citrate for the treatment of Duchenne muscular dystrophy.
The sponsorship was transferred to Quality Regulatory Clinical Ireland Limited, Ireland, in July 2019.
Duchenne muscular dystrophy (DMD) is a genetic disease that causes increasing weakness and atrophy (wasting) of muscles. It mainly affects boys, and is usually diagnosed before the age of 6 years. The muscle weakness usually starts in the hips and legs, before affecting the arms, chest and the heart. Patients with DMD lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from damage as muscles contract and relax, in patients with DMD the muscles become weaker and eventually stop working.
DMD causes long-term disability and is life threatening because of its effects on the heart and the respiratory muscles (muscles that are used to breathe). The disease usually leads to death in early adulthood.
At the time of designation, DMD affected less than 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 26,000 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 515,700,000 (Eurostat 2017).
At the time of designation, the medicine Translarna (ataluren) was authorised in the EU for the treatment of a small group of patients with DMD due to a particular type of mutation, called a nonsense mutation, in the dystrophin gene. Patients also received corticosteroids and supportive treatment such as physiotherapy.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with DMD because laboratory data indicate that it is may be used to treat a wider range of DMD patients and not just those with a particular mutation. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Tamoxifen citrate acts on oestrogen receptors (targets) on various cell types, including muscle cells, which has the effect of increasing strength and repairing muscles. Tamoxifen citrate is also expected to protect muscle cells from several types of damage that occurs in DMD.
The effects of tamoxifen citrate have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with tamoxifen citrate in patients with DMD had been started.
At the time of submission, tamoxifen citrate was authorised in the EU for the treatment of breast cancer and infertility in women.
At the time of submission, tamoxifen citrate was not authorised anywhere in the EU for DMD 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 5 October 2017 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
- Tamoxifen citrate
- Intended use
- Treatment of Duchenne muscular dystrophy
- Orphan designation status
- Positive
- EU designation number
- EU/3/17/1944
- Date of designation
- Sponsor
Quality Regulatory Clinical Ireland Limited
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:
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.
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: