EU/3/19/2214 - orphan designation for treatment of soft tissue sarcoma
Nirogacestat
OrphanHuman
Overview
On 17 October 2019, orphan designation EU/3/19/2214 was granted by the European Commission to Voisin Consulting S.A.R.L., France, for nirogacestat for the treatment of soft tissue sarcoma.
In October 2021, Voisin Consulting S.A.R.L. changed name to Voisin Consulting Life Sciences.
Soft tissue sarcoma is a cancer that affects the soft, supportive tissues of the body. It can occur in muscles, blood vessels, fat tissue or in other tissues that support, surround and protect organs. Patients with soft tissue sarcoma do not usually have symptoms in the early stages of the disease. First symptoms appear when the cancer grows large enough to cause swelling and pain.
Soft tissue sarcoma is a long-term debilitating and life-threatening disease, particularly when the cancer has spread to other parts of the body.
At the time of designation, soft tissue sarcoma affected approximately 4.6 in 10,000 people in the European Union (EU). This was equivalent to a total of around 238,000 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 518,400,000 (Eurostat 2019).
At the time of designation, the main treatments for soft tissue sarcoma were surgery and chemotherapy (medicines to treat cancer). Radiotherapy (treatment with radiation) was also used. Several medicines have been authorised in the EU for the treatment of soft tissue sarcoma.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with soft tissue sarcoma. Results in patients with a type of soft tissue sarcoma called a desmoid tumour (aggressive fibromatosis), whose disease had not responded to treatment or had come back again, suggested that treatment with nirogacestat could produce improvements in their condition. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
Nirogacestat is a small molecule that blocks the action of an enzyme called gamma secretase (GS) which controls a process inside the cell (called Notch signalling) that switches on certain genes. This process is believed to be abnormal in some cancer cells and to play an important role in the development of the cancer. By blocking the action of GS, nirogacestat can prevent abnormal Notch signalling and reduce the growth of soft tissue sarcomas that depend on it.
The effects of nirogacestat have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials with nirogacestat in patients with soft tissue sarcoma were ongoing.
At the time of submission, nirogacestat was not authorised anywhere in the EU for the treatment of soft tissue sarcoma. Orphan designation of nirogacestat had been granted in the United States for treatment of desmoid tumour.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 12 September 2019, 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
- Nirogacestat
- Intended use
- Treatment of soft tissue sarcoma
- Orphan designation status
- Positive
- EU designation number
- EU/3/19/2214
- Date of designation
- Sponsor
Springworks Therapeutics Ireland Limited
Update history
| Date | Update |
|---|---|
| November 2023 | The sponsorship was transferred from Voisin Consulting Life Sciences to Springworks Therapeutics Ireland Limited. |
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: