EU/3/22/2635 - orphan designation for treatment of neuronal ceroid lipofuscinosis

tamoxifen citrate
OrphanHuman

Overview

This medicine was designated as an orphan medicine for the treatment of neuronal ceroid lipofuscinosis (NCLs) 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:

Commonly referred to as Batten Disease, neuronal ceroid lipofuscinosis is a group of inherited diseases (called lysosomal storage disorders) where deposits known as lipofuscins made of fats and proteins build up in the brain and other parts of the body (such as the eye), causing nerve damage. Tamoxifen activates a protein called TFEB, which is involved in the breakdown of old, damaged, or abnormal proteins and other substances in the cells. Cleaning up of lipofuscins is expected to reduce the symptoms of the disease. In experimental models, tamoxifen has been shown to reduce the accumulation of the lipofuscin Gb3, reduce neuroinflammation and improve motor function.

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 neuronal ceroid lipofuscinosis (NCLs) 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
tamoxifen citrate
Intended use
Treatment of neuronal ceroid lipofuscinosis
Orphan designation status
Positive
EU designation number
EU/3/22/2635
Sponsor

Fondazione Telethon Ets

Update history

Date Update
November 2022 The sponsor's name was changed from Fondazione Telethon to Fondazione Telethon Ets in November 2022.

EMA list of opinions on orphan medicinal product designation

EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

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:

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