We focus on
rare diseases

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000 persons (0.05%).1

These diseases are sometimes also called orphan diseases referring to lack of support and resources for discovering treatments for them. Hopefully, some countries or regions are granting economically advantageous conditions to creating and selling such treatments.

In Europe:

  • a disease is said to be “ultra-rare” if it affects less than 1 in 50,000 people.2
  • a disease is said to be “orphan” when there is no existing treatment to cure it.3

Rare diseases are not so rare

There are more than

6000 to 8000

rare diseases4

30 million

people in Europe

are living with rare diseases1

50 to 75%

of rare diseases

begin in childhood6

Type of rare diseases

Most rare diseases are genetic and inherited, but they could be acquired as a result of infections, allergies, immunologic disorders, chromosome disorders, degenerative or proliferative causes. For many rare conditions, the causes are frustratingly elusive.5

50% to 75% of the rare diseases could manifest in childhood6 and more than 50% of them have neurologic presentations.7 This means that neurologists and pediatricians are among the main specialists involved in their diagnosis and research.

What about treatments for rare diseases

For many patients, the diagnosis comes a frustratingly long time after symptoms first become evident.5

To stimulate the research for treatment for these diseases, medicines Agencies could grant specific advantageous marketing authorization for medicines for rare diseases, which are termed ‘orphan medicines’.1

Serb Pharmaceuticals is making available different drugs for such diseases in Neurology and pediatrics.

Visit also our dedicated website on Lambert Eaton Myasthenic syndrome www.lems.com

Useful links

ORPHANET

The portal for rare diseases and orphan drugs:
www.orpha.net

EURORDIS

Rare Diseases Europe, non-profit alliance of hundred rare disease patient organizations from more than 70 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.
www.eurordis.org

REFERENCES
  1. EMA. EMA Orphan Designation Overview. European Medicines Agency (EMA). [Online] 2021. https://www.ema.europa.eu/en/human-regulatory/overview/orphan-designation-overview.
  2. Harari, S. and Humbert, M. (2020) “Ultra-rare disease: an European perspective,” European respiratory review: an official journal of the European Respiratory Society, 29(156), p. 200195.
  3. Sciensano.be. [Online] https://www.sciensano.be/en/health-topics/rare-diseases.
  4. Eurordis. [Online] https://www.eurordis.org/about-rare-diseases.
  5. Field. Rare Diseases and Orphan Products: Accelerating Research and. 2010. ISBN 978-0-309-15806-0 | DOI 10.17226/12953.
  6. Emergence of pediatric rare diseases. Bavisetty. e23579, 1 28, 2013, Rare Diseases, Vol. 1.
  7. Rare neurological diseases: a Pandora’s box for neurology (an European and Italian perspective). Federico. Sup1, 2013, Rev. Neurol. (Paris), Vol. 169, pp. S12-7.