EU/3/21/2527: Orphan designation for the treatment of cystic fibrosis

(14S)-8-[3-(2-{dispiro[2.0.24.13]heptan-7-yl}ethoxy)-1H-pyrazol-1-yl]-12,12-dimethyl-2lamba6-thia-3,9,11,18,23-penta-azatetracyclo[17.3.1.111,14.05,10]tetracosa-1(22),5,7,9,19(23),20-hexaene-2,2,4-trione calcium salt hydrate, deutivacaftor, tezacaftor

Overview
Key facts

Overview

This medicine was designated as an orphan medicine for the treatment of cystic fibrosis in the European Union on 12 November 2021.

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:

EU Clinical Trials Register

ClinicalTrials.gov

: Collagen VI-related myopathies result, in part, from defects in the function of mitochondria (the energy-producing components within cells). These defective actions are brought about through the action of a protein called cyclophilin D and can result in the death of muscle cells. Alisporivir prevents the effects of cyclophilin D and restores normal functioning of the mitochondria. This prevents cell death in muscle fibres of patients with collagen VI-related myopathies.
Based on description provided by sponsor

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

The effects of the medicine had been evaluated in experimental models.
No clinical trials with the medicine in patients with narcolepsy 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:

Orphan designation: Overview

Rare diseases, orphan medicines: Getting the facts straight

Key facts

Active substance	(14S)-8-[3-(2-{dispiro[2.0.24.13]heptan-7-yl}ethoxy)-1H-pyrazol-1-yl]-12,12-dimethyl-2lamba6-thia-3,9,11,18,23-penta-azatetracyclo[17.3.1.111,14.05,10]tetracosa-1(22),5,7,9,19(23),20-hexaene-2,2,4-trione calcium salt hydrate, deutivacaftor, tezacaftor
Intended use	Treatment of cystic fibrosis
Orphan designation status	Positive
EU designation number	EU/3/21/2527
Date of designation	12/11/2021
Sponsor	Vertex Pharmaceuticals (Ireland) Limited Unit 49 Northwood Court Block F2 Santry Dublin 9 Ireland E-mail: vertexmedicalinfo@vrtx.com

Documents related to this orphan designation evaluation

Minutes of the COMP meeting 5-7 October 2021 (PDF/469.23 KB)

Adopted

First published: 14/12/2021

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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