EU/3/22/2596: Orphan designation for the treatment of Hypertrophic cardiomyopathy due to mutations in the MYBPC3 gene encoding cardiac myosin-binding protein C

Adeno-associated virus serotype 9 containing human MYBPC3 gene

Overview
Key facts

Overview

This medicine was designated as an orphan medicine for the treatment of hypertrophic cardiomyopathy due to mutations in the MYBPC3 gene encoding cardiac myosin-binding protein C in the European Union on 13 April 2022.

This means that the developer will receive scientific and regulatory support from EMA to advance their medicine to the stage where they can apply for a marketing authorisation.

Orphan designation does not mean the medicine is available or authorised for use. All medicines, including designated orphan medicines, must be authorised before they can be marketed and made available to patients in the EU.

During the medicine's development, doctors may be able to enrol patients in clinical trials investigating the medicine. For information on ongoing clinical trials in the EU, see:

: This medicine belongs to the class of: Gene transference; Myosin-binding protein C (MYBPC3) replacements.

Patients with an altered (mutated) MYBPC3 gene develop hypertrophic cardiomyopathy (HCM) because they cannot produce MYBPC3 protein in heart muscle. Without enough of this protein the heart walls thicken and do not pump blood properly.

This medicine is a manufactured virus that delivers a normal copy of the MYBPC3 gene to the heart muscle cells. This medicine has a special signal so it only works in heart muscle cells. The heart muscle cells can then make enough of the protein to slow or reverse symptoms of HCM.

The type of virus used in this medicine ('adeno-associated virus') does not cause disease in humans.

Based on description provided by sponsor

At the time of submission of the application for orphan designation:

The evaluation of the effects of the medicine in experimental models was ongoing.
No clinical trials with the medicine in patients with hypertrophic cardiomyopathy due to mutations in the MYBPC3 gene encoding cardiac myosin-binding protein C had been started.

More information on how potential new medicines are tested during their development is available on Authorisation of medicines.

Medicines intended for rare diseases can be granted an orphan designation during their development.

The orphan designation allows the developer to benefit from:

scientific and regulatory support to advance their medicine to the stage where they can request marketing authorisation;
market exclusivity once the medicine is on the market.

To qualify for orphan designation, a medicine must meet a number of criteria:

it must be intended for the treatment, prevention or diagnosis of a disease that is life-threatening or chronically debilitating;
the prevalence of the condition in the EU must not be more than 5 in 10,000 or it must be unlikely that marketing of the medicine would generate sufficient returns to justify the investment needed for its development;
there are no satisfactory alternative methods for the diagnosis, prevention or treatment of the condition or, if such a method exists, the medicine is of significant benefit to those affected by the condition.

EMA's Committee for Orphan Medicinal Products (COMP) is responsible for issuing opinions on applications for orphan designations.

The Agency sends the COMP opinion to the European Commission, which is responsible for granting the orphan designation. The full list of orphan designations is available in the Community register of orphan medicinal products for human use.

For more information, see:

Key facts

Active substance	Adeno-associated virus serotype 9 containing human MYBPC3 gene
Intended use	Treatment of Hypertrophic cardiomyopathy due to mutations in the MYBPC3 gene encoding cardiac myosin-binding protein C
Orphan designation status	Positive
EU designation number	EU/3/22/2596
Date of designation	13/04/2022
Sponsor	Yes Pharmaceutical Development Services GmbH Bahnstrasse 42-46 61381 Friedrichsdorf Hassia Germany E-mail: clinical.trials@tenayathera.com

Minutes of the COMP meeting on 15-17 March 2022 (PDF/505.22 KB)

Adopted

First published: 13/06/2022
Last updated: 22/09/2022
EMA/COMP/157930/2022

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.

EU register of orphan medicines

The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:

European Commission: Community Register of orphan medicinal products

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