EU/3/16/1765 - orphan designation for treatment of primary coenzyme Q10 deficiency syndrome

ubiquinol

Overview

On 14 October 2016, orphan designation (EU/3/16/1765) was granted by the European Commission to Centro de Investigación Biomédica en Red (CIBER), Spain, for ubiquinol for the treatment of primary coenzyme Q₁₀ deficiency syndrome.

In October 2017 Centro de Investigación Biomédica en Red (CIBER) changed name to Consorcio Centro de Investigación Biomédica en Red, M.P.

The sponsor's name was updated in November 2022.

What is primary coenzyme Q10 deficiency syndrome?

Primary coenzyme Q₁₀ deficiency syndrome is an inherited disease caused by defects in the genes for coenzyme Q₁₀, a vitamin-like substance vital for producing the energy that cells need to work properly. Deficiency of coenzyme Q₁₀ causes damage to organs that are highly dependent on the availability of energy such as the brain, muscles, liver and the kidneys. This can lead to muscle weakness, kidney failure and encephalopathy. Encephalopathy, which includes effects such as fits and reduced mental capacity, is caused by the build-up in the brain of waste substances that the damaged liver is no longer able to remove.

The condition is long-term debilitating and life-threatening, mainly because it causes kidney failure and encephalopathy.

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

At the time of designation, primary coenzyme Q₁₀ deficiency syndrome affected approximately 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 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).

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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, ubiquinone was authorised in the EU to treat primary coenzyme Q₁₀ deficiency syndrome.

The sponsor has provided sufficient information to show that ubiquinol might be of significant benefit for patients with the condition because it is expected to be better absorbed than ubiquinone, allowing lower doses to be used, which may help patients to stick to their treatment. In addition, it may work in patients who do not improve on ubiquinone. 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?

Ubiquinol is a form of coenzyme Q₁₀. The medicine is expected to replace the natural coenzyme Q₁₀, thereby helping the cells to produce energy and improving the symptoms of the disease.

What is the stage of development of this medicine?

The effects of ubiquinol have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with ubiquinol in patients with primary coenzyme Q₁₀ deficiency syndrome were ongoing.

At the time of submission, ubiquinol was not authorised anywhere in the EU for primary coenzyme Q₁₀ deficiency syndrome 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 September 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/3/16/1765: Public summary of positive opinion for orphan designation of ubiquinol for the treatment of primary coenzyme Q10 deficiency syndrome

Adopted Reference Number: EMA/620954/2016

Key facts

• Active substance:
  ubiquinol
• Intended use:
  Treatment of primary coenzyme Q10 deficiency syndrome
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/16/1765
• Date of designation:
  20/09/2016
• Sponsor:

  Consorcio Centro de Investigación Biomédica en Red;