EU/3/19/2136 - orphan designation for treatment of CHARGE syndrome

Allogeneic cultured postnatal thymus-derived tissue

Overview

On 26 February 2019, orphan designation (EU/3/19/2136) was granted by the European Commission to Enzyvant Therapeutics Ireland Limited, Ireland, for allogeneic cultured postnatal thymus-derived tissue (also known as RVT-802) for the treatment of CHARGE syndrome.

What is CHARGE syndrome?

CHARGE syndrome is a genetic disorder often caused by mutations (changes) in the genes for a protein called CHD7 that is needed for normal development of an unborn child.

Patients with CHARGE syndrome may have an eye defect called coloboma, where part of the eye did not develop properly in the womb. Other problems include delayed growth and abnormalities affecting many parts of the body including the heart, the back of the nose, genitals, brain, limbs, spine and ears. Some patients with CHARGE syndrome have very low levels of, or completely lack, T cells (a type of white blood cell that fights infections) and are therefore prone to infections.

CHARGE syndrome is a long-term debilitating and life-threatening condition due to heart defects, brain and breathing problems and infections.

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

At the time of designation, CHARGE syndrome affected approximately 0.9 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 47,000 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 518,400,000 (Eurostat 2019).

What treatments are available?

At the time of application for orphan designation, there was no satisfactory treatment for CHARGE syndrome authorised in the EU. Within the first few years of life, many patients with CHARGE syndrome undergo surgeries to correct physical abnormalities. Other interventions to correct swallowing and respiratory problems, sleep apnoea, hearing and vision problems were often used.

How is this medicine expected to work?

The medicine is intended to treat patients with CHARGE syndrome who have a non-functional thymus gland and thus have very low levels of, or completely lack, T cells. The medicine comprises slices of tissue from a donor’s thymus gland. The thymus gland is a gland below the breastbone that helps the T cells to develop properly. The donor tissue is processed in a laboratory so that it is compatible with the patient’s body and is then inserted into the patient’s body by surgery. This is expected to help patients produce T cells and fight infections.

What is the stage of development of this medicine?

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with CHARGE syndrome who have a non-functional thymus gland were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for CHARGE 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 24 January 2019 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/3/19/2136: Public summary of opinion on orphan designation for allogeneic cultured postnatal thymus-derived tissue for the treatment of CHARGE syndrome

AdoptedReference Number: EMADOC-628903358-453Summary:

On 26 February 2019, orphan designation (EU/3/19/2136) was granted by the European Commission to Enzyvant Therapeutics Ireland Limited, Ireland, for allogeneic cultured postnatal thymus-derived tissue (also known as RVT-802) for the treatment of CHARGE syndrome.

Key facts

• Active substance:
  Allogeneic cultured postnatal thymus-derived tissue
• Intended use:
  Treatment of CHARGE syndrome
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/19/2136
• Date of designation:
  26/02/2019
• Sponsor:

  Myovant Sciences Ireland Limited