EU/3/22/2628 - orphan designation for treatment of gain-of-function mutations of STIM1 and ORAI1 related diseases

3-(1-(2',3'-dimethoxy-[1,1'-biphenyl]-4-yl)-1H-1,2,3-triazol-4-yl)benzoic acid

Overview

This medicine was designated as an orphan medicine for the treatment of gain-of-function mutations of STIM1 and ORAI1 related diseases in the European Union on 21 June 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:

• EU Clinical Trials Register

• ClinicalTrials.gov

How the medicine is expected to work

This medicine, also known as CIC-39, is a small molecule that belongs to the class of biphenyl triazoles. It is expected to modulate a process called store-operated calcium entry (SOCE), a mechanism that regulates calcium homeostasis in cells.
Tubular aggregate myopathy, Stormorken and York platelet syndromes are a cluster of ultra-rare genetic disorders characterized by muscle deficit and thrombocytopenia. These conditions are triggered by so-called gain-of-function mutations in two genes encoding the STIM1 and ORAI1 proteins. These proteins are key players for SOCE and mutations result in an over-activation of SOCE, leading to a calcium overload in cells that eventually triggers the development of symptoms. By reducing the activity of SOCE, CIC-39 is expected to restore calcium levels and counteract both muscle deficit and thrombocytopenia.

Based on description provided by sponsor

Stage of development at time of orphan designation

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 gain-of-function mutations of STIM1 and ORAI1 related diseases had been started.

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

About orphan designation

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:
  3-(1-(2',3'-dimethoxy-[1,1'-biphenyl]-4-yl)-1H-1,2,3-triazol-4-yl)benzoic acid
• Intended use:
  Treatment of gain-of-function mutations of STIM1 and ORAI1 related diseases
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/22/2628
• Date of designation:
  21/06/2022
• Sponsor:

  ChemICare S.R.L.; Via Canobio Amico 4/6; 28100 Novara NO; Italy; Email: [e-mail]