EU/3/20/2320: Orphan designation for the treatment of Menkes disease

Menkes disease is a genetic disorder that affects how copper from food, which is essential for the good functioning of many organs, is distributed in the body. In people with Menkes disease, because of a genetic mutation (change), copper is not efficiently transported from the gut into the bloodstream and distributed throughout the body. As a result, copper is not able to adequately reach some organs such as the brain and liver, while it builds up in other organs such as the gut and the kidneys, damaging them. Symptoms usually appear within the first few months of life and may include sparse, kinky and brittle hair, slow growth, seizures (fits), low muscle tone, sagging facial features, and developmental and intellectual disability.

Menkes disease is a debilitating disease that can be life-threatening due to progressive damage to the brain and problems affecting blood vessels, the bones and several organs.

At the time of designation, Menkes Disease affected less than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 52,000 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 submission of the application for orphan designation, no treatments were authorised in the EU for the treatment of Menkes disease. Patients were sometimes given injections of copper supplements and their symptoms treated with painkillers, medicines for seizures and physical therapy.

This medicine is made of copper histidinate, a form of copper that can be given by injection under the skin. Once given to the patient, the medicine can replenish copper histidinate normally found in the blood, restore the balance of copper in the body and thereby improve the symptoms of the disease.

The effects of copper histidinate have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with copper histidinate in patients with Menkes disease were ongoing.

At the time of submission, copper histidinate was not authorised anywhere in the EU for the treatment of Menkes disease. Orphan designation of copper histidinate had been granted in the United States for the condition.

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 16 July 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.