EU/3/16/1676 - orphan designation for treatment of creatine deficiency syndromes

Cyclocreatine

Overview

Please note that this product was withdrawn from the Community Register of designated Orphan Medicinal Products in July 2019 on request of the sponsor.

On 27 June 2016, orphan designation (EU/3/16/1676) was granted by the European Commission to Pharma Gateway AB, Sweden, for cyclocreatine for the treatment of creatine deficiency syndromes.

What are creatine deficiency syndromes?

Creatine deficiency syndromes are a group of disorders in which the body cannot make a substance known as creatine or transport it into the brain. The resulting lack of creatine in the brain causes severe problems including learning disability, speech and behaviour problems and epilepsy. Additional features include failure of the baby to thrive, poor growth, weak muscle tone and abnormal movements.

Creatine deficiency syndromes are debilitating in the long term because of their effects on the child's mental development.

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

At the time of designation, creatine deficiency syndromes affected approximately 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of around 500 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 513,700,000 (Eurostat 2016).

What treatments are available?

At the time of designation, no satisfactory treatments were authorised for the condition and the only standard treatment was life-long supportive care. Creatine supplements were used in some forms of the condition.

How is this medicine expected to work?

Cyclocreatine is structurally similar to creatine and is intended as a replacement for creatine that is lacking in the patient's brain. Cyclocreatine is expected to be transported across the blood-brain barrier in a different way to creatine and thus overcome the lack of creatine in the brain.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of cyclocreatine in experimental models was ongoing.

At the time of submission, no clinical trials with cyclocreatine in patients with creatine deficiency syndromes had been started.

At the time of submission, cyclocreatine was not authorised anywhere in the EU for creatine deficiency syndromes. Orphan designation had been granted in the United States for creatine transporter deficiency.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 19 May 2016 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/3/16/1676: Public summary of opinion on orphan designation: Cyclocreatine for the treatment of creatine deficiency syndromes

Adopted Reference Number: EMA/396044/2016

Key facts

• Active substance:
  Cyclocreatine
• Intended use:
  Treatment of creatine deficiency syndromes
• Orphan designation status:
  Withdrawn
• EU designation number:
  EU/3/16/1676
• Date of designation:
  27/06/2016
• Sponsor:

  Pharma Gateway AB;