EU/3/20/2305: Orphan designation for the treatment of myelodysplastic syndromes

Myelodysplastic syndromes are a group of disorders in which the red blood cells, white blood cells and platelets produced by the bone marrow (the spongy tissue inside large bones) do not mature normally. Patients with myelodysplastic syndromes can develop tiredness or weakness due to anaemia (low red blood cell counts), infections due to low white blood cell counts, and bruising or abnormal bleeding due to low platelet counts.

Myelodysplastic syndromes are long-term debilitating and life-threatening diseases because they can lead to severe anaemia, infections or bleeding, and can result in leukaemia (cancer of the white blood cells).

At the time of designation, myelodysplastic syndromes affected approximately 2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 104,000 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).

*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).

At the time of designation, several medicines were authorised in the EU for the treatment of myelodysplastic syndromes including azacitidine, lenalidomide and imatinib. The choice of treatment depended on a number of factors, including the type and the extent of the disease, whether it had been treated before, and the patient's age, symptoms and general state of health. The main treatments included medicines that stimulate production of blood cells, chemotherapy (medicines to treat cancer), blood transfusions and stem cell transplantation. Stem cell transplantation is a procedure where the patient's bone marrow is cleared of cells and replaced with stem cells from a donor to form new bone marrow that produces healthy blood cells.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with myelodysplastic syndromes, because early data showed that some patients did not need blood transfusions or needed fewer transfusions after treatment with the medicine. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

The medicine is expected to work by blocking the activity of an enzyme called telomerase that is involved in protecting the cell’s genetic material during cell growth and division. When telomerase is not active, the genetic material in the abnormal blood cells become damaged, the cells cannot divide, and they die. This is expected to slow down progression of the disease.

The effects of imetelstat sodium have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with imetelstat sodium in patients with myelodysplastic syndromes were ongoing.

At the time of submission, imetelstat sodium was not authorised anywhere in the EU for the treatment of myelodysplastic syndromes. Orphan designation of imetelstat sodium had been granted in United States for myelodysplastic syndromes.

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 18 June 2020, 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.