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An insight into orphan diseases and why research into those rare diseases matters!

You may have read “orphan disease” or have seen us using the word. But what are those?

Per definition, an orphan disease is defined as a condition that affects fewer than 200.000 people in the United Stated and fewer that 1 in 2.000 in Europe. Diseases are for example cystic fibrosis, Tourette´s syndrome, but also unfamiliar ones as PXE, acromegaly or GACI. Some of those rare diseases even have patient populations of fewer than a hundred worldwide.


Why do those diseases not have the same research attention as others and why does it seem that there is no treatment for most of them?


Often, those disease are not adopted by the pharmaceutical industry as they provide little financial incentive, and yield little financial return on investment due to their limited size of the rare disease drug market. Thus, treatments are often not considered profitable due to their cost to develop and limited patient population.

Medicines intended for the diagnosis, treatment or prevention of those rare disease are called Orphan medical products (OMPs) and face a lot of challenges in development and funding of the clinical use of OMPs.


Just to give you some numbers in order to fully understand the importance of drug approvals for those rare diseases:

- Around 350 million people worldwide live with rare diseases

- 80% of them are of genetic origin

- About 7000 rare diseases are identified to date

- But only 236 have orphan drugs either in the market or in development

- So far, less than 5% of rare disease identifies have potential treatments

With this said, the urgency of development for OMPs should be clear. Patients and their families spend years trying to get the right diagnosis, and therapeutics options are often unclear or lacking. We at Elastrin Therapeutics therefore aim to help patients who often face few treatment options and to get more knowledge of the building blocks and basics that control multiple diseases. Therefore, we target orphan indications with severe arterial calcification, where no therapies are approved yet. Those in development only halt progression of disease whereas our universal platform targets the elastic fiber in connective tissue and improves the safety and efficacy of drugs.


How does orphan drug development differ to the clinical trials? We will examine this more in detail in our next article.


 

https://www.medicinenet.com/orphan_disease/definition.htm

https://www.fda.gov/drugs/information-consumers-and-patients-drugs/orphan-products-hope-people-rare-diseases

https://www.bag.admin.ch/bag/en/home/krankheiten/krankheiten-im-ueberblick/viele-seltene-krankheiten.html

https://www2.deloitte.com/ch/en/pages/life-sciences-and-healthcare/articles/the-power-of-rare.html

https://www.ncsl.org/research/health/rare-and-orphan-diseases.aspx

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885144/