EU/3/14/1341: Orphan designation for the treatment of cystinosis

Cystinosis is an inherited disease in which the amino acid cystine builds up within cells. The cystine forms crystals that can damage the organs, especially the kidneys and the eyes. Cystinosis is caused by abnormalities in a protein called cystinosin, which normally helps to remove excess cystine from cells.

Cystinosis is a long-term debilitating condition that can lead to sight loss and intolerance to light and which may be life threatening because it can lead to kidney failure if left untreated.

At the time of designation, cystinosis affected approximately 0.15 in 10,000 people in the European Union (EU). This was equivalent to a total of around 7,600 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 511,100,000 (Eurostat 2014).

At the time of application for orphan designation, two medicines (Cystagon and Procysbi) containing cysteamine were authorised in the EU for use by mouth in the treatment of cystinosis. Ophthalmic (eye) formulations of cysteamine were not authorised in the EU, but were made up locally and used for the management of eye symptoms.

The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with cystinosis because the existing authorised medicines containing cysteamine given by mouth cannot adequately treat deposits of cystine in the eyes, whereas results from published studies suggest that this medicine, which is formulated as eye drops, can reduce such deposits. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

Cysteamine hydrochloride works by reacting with cystine to form other substances that are able to be removed from the cells. As a result, the amount of cystine in the cells is reduced, limiting the amount of organ damage.

The sponsor has provided data in experimental models from the published literature to support its application for orphan designation.

At the time of submission of the application for orphan designation, no clinical trials with this medicine in patients with cystinosis had been started by the sponsor.

At the time of submission, the medicine was not authorised anywhere in the EU for cystinosis 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 4 September 2014 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.