EU/3/18/2110: Orphan designation for the treatment of Fanconi anaemia

Fanconi anaemia is an inherited disorder that mainly affects the bone marrow and results in reduced production of blood cells. Patients with Fanconi anaemia are generally born with physical malformations, and over the years they develop a wide range of complications such as bone marrow failure (inability to produce new blood cells) and cancers such as squamous cell cancer of the head and neck and acute myeloid leukaemia (a cancer of the white blood cells).

Fanconi anaemia is a severely debilitating and life-threatening condition because of the bone marrow failure and the susceptibility to cancers, which lead to shortened life expectancy.

At the time of designation, Fanconi anaemia affected less than 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 5,000 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 517,400,000 (Eurostat 2018).

Afatinib is intended for the treatment of head and neck squamous cell carcinoma in patients with Fanconi anaemia. At the time of application for orphan designation, treatments for this type of cancer included chemotherapy and radiotherapy.

The sponsor has provided sufficient information to show that afatinib might be of significant benefit for patients with Fanconi anaemia because preliminary studies suggest that this medicine may cause fewer side effects than currently available treatments for head and neck squamous cell carcinoma. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

Afatinib blocks the action of a group of proteins known as ‘ErbB family’ which are found on the surface of cancer cells and are involved in stimulating the cells to grow and multiply. By blocking these proteins, afatinib is expected to slow down the growth and spread of head and neck squamous cell carcinoma in patients with Fanconi anaemia.

The effects of afatinib have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with afatinib in patients with Fanconi anaemia had been started.

At the time of submission, afatinib was authorised in the EU under the trade name Giotrif for the treatment of non-small cell lung cancer.

At the time of submission, afatinib was not authorised anywhere in the EU for Fanconi anaemia 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 November 2018 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.