EU/3/14/1240 - orphan designation for treatment of cystic fibrosis

cysteamine

Overview

On 19 February 2014, orphan designation (EU/3/14/1240) was granted by the European Commission to 'Istituto Europeo per la Ricerca sulla Fibrosi Cistica' – ONLUS, Italy, for cysteamine for the treatment of cystic fibrosis.

In February 2017, Raptor Pharmaceuticals Europe B.V changed name to Horizon Pharma Europe B.V.

The sponsorship was transferred to Istituto Europeo per la Ricerca sulla Fibrosi Cistica - Onlus, Italy, in April 2017.

What is cystic fibrosis?

Cystic fibrosis is a hereditary disease that affects the cells in the lungs, and the glands in the gut and pancreas, that secrete fluids such as mucus and digestive juices. In cystic fibrosis, these fluids become thick and viscous, blocking the airways and the flow of digestive juices. This leads to long-term infection and inflammation of the lungs because of excess mucus not being cleared away, and to problems with the digestion and absorption of food, resulting in poor growth.

Cystic fibrosis is caused by abnormalities in a gene that makes a protein called 'cystic-fibrosis transmembrane conductance regulator' (CFTR), which is involved in regulating the production of mucus and digestive juices.
Cystic fibrosis is a long-term debilitating and life-threatening disease because it severely damages the lung tissue, leading to problems with breathing and to recurrent chest infections.

What is the estimated number of patients affected by the condition?

At the time of designation, cystic fibrosis affected approximately 0.7 in 10,000 people in the European Union (EU). This was equivalent to a total of around 36,000 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).

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*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).

What treatments are available?

At the time of designation, lung infection in cystic fibrosis was mainly treated with antibiotics. Kalydeco (ivacaftor) was authorised to correct the defect of the CFTR protein in a subgroup of patients with cystic fibrosis with the G551D mutation. Other medicines used to treat the lung disease included anti-inflammatory agents, bronchodilators (medicines that help to open up the airways in the lungs) and mucolytics (medicines that help dissolve the mucus in the lungs). In addition, patients with cystic fibrosis were often given other types of medicines such as pancreatic enzymes (substances that help to digest and absorb food) and food supplements. They were also advised to exercise and to undergo physiotherapy.

The sponsor has provided sufficient information to show that cysteamine might be of significant benefit for patients with cystic fibrosis because early studies in experimental models show that it works in a different way to existing treatments and that it might be used to treat cystic fibrosis patients with the most common genetic abnormality (F508D). This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

How is this medicine expected to work?

Cysteamine is expected to work in patients with cystic fibrosis by improving the ability of the defective CFTR protein to function in patients with the most common genetic abnormality (F508D). Cysteamine may also reduce inflammation in the airways of cystic fibrosis patients, thereby improving the symptoms of the disease.
This medicine is expected to be taken by mouth.

What is the stage of development of this medicine?

The effects of cysteamine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with this medicine in patients with cystic fibrosis were planned.

At the time of submission, cysteamine was authorised as Cystagon and Procysbi in the EU for the treatment of nephropathic (kidney) cystinosis.

At the time of submission, this medicine was not authorised anywhere in the EU for cystic fibrosis. Cysteamine had already been granted orphan designation in the EU for cystic fibrosis.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 9 January 2014 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria:

• 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.

EU/3/14/1240: Public summary of opinion on orphan designation: Cysteamine for the treatment of cystic fibrosis

Adopted Reference Number: EMA/COMP/27210/2014

Key facts

• Active substance:
  cysteamine
• Intended use:
  Treatment of cystic fibrosis
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/14/1240
• Date of designation:
  19/02/2014
• Sponsor:

  Istituto Europeo per la Ricerca sulla Fibrosi Cistica - Onlus; Via Olgettina; 58, presso Istituto San Raffaele; DIBIT1; 20132 Milano; Italy; Tel. + 390 2264 34301; E-mail: [e-mail]

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.