Rare Diseases & Orphan Drug Product

Feb 28 is Rare Disease Day. It has been established to raise awareness of various rare diseases. Whenever I think of rare diseases, it always remind me of the movie Extraordinary Measures  which was based on the true story of a family with children with Pompe disease, otherwise known as acid maltase deficiency. Many rare diseases may be related to genetic defects and other culprits at a cellular or molecular level. As such, potential treatments and cures often require innovative biologics which are expensive to invest in research and development.

In 1983, the Orphan Drug Act was passed in US  to encourage pharmaceutical companies to invest in products that have the potential to manage rare diseases. There are many benefits to registering as an orphan drug including tax credits, marketing exclusivity for 7 years and expedited process for review and approval.

I was curious to find out what drugs or therapies have been classified as orphan drugs.  So I conducted the search recently.  In the past 10 years, at least 300 drug products were approved under the status of orphan drug products in US. As suspected, many biologics such as monoclonal antibodies (bevacizumab), small molecules (alectinib) and vaccines (anthrax vaccine) would fall into this category. But I also find many unexpected medications that have also been labelled as the orphan drug designation too.  Below are some pharmaceuticals that I didn’t think should be labelled as orphan drug:

  • Aripiprazole – Tourette’s Syndrome
  • Botulinum Toxin Type A – Muscle Contracture in Pediatric Cerebral Palsy
  • Benzoate – Acute Hyperammonemia in patients with deficiency in enzymes of the urea cycle
  • Capsiacin – Herpetic neuralgia
  • Clobazam – Treatment of Lennox Gastaut Syndrome
  • Colchicine – Familial Mediterranean Fever

There are many more on the list that caught my attention but while the disease is considered rare, the treatment is far from rare or innovative. In fact, some of these medications have been around for a long time and would require little investment to explore their place of therapy in these rare diseases.

I don’t want to take away the day to talk about how some pharmaceutical companies are exploiting the orphan drug status for profitability but that is something clinicians should be aware of.

Individuals who have been affected by rare diseases deserve the same level of care. It can be frustrating for patients and families to feel left out when their conditions are not well known or sometimes they end up being the source of education for the clinicians. Although these diseases are rare and are not routinely taught in school, we should all take responsibilities to learn about them as we come across in our clinical work.

To find out more information on rare diseases, check out the following link:


For those who are affected by rare diseases, I hope we will soon find cures for you. Until then, I hope everyone is at least more aware of your rare disease. I hope we can all do our best to improve the quality of life throughout your journey with your rare disease.


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My name is Cynthia Leung and I am a practicing pharmacist in Kingston Ontario, Canada. This blog is for me to share my ideas, opinions and perspectives on how medications are used in our health care system. Note that these posts are my own opinions and do not represent the opinions of my current or former employers and / or organizations that I may belong to. Any possible case scenarios described in my posts would be modified to maintain patient confidentiality. This blog is not a platform for professional advise for patients or health care providers and the content is not meant to support any clinical decisions or replace professional opinions. Also the images are either taken or created by the author, or adapted with permission. I hope you will enjoy reading my posts!

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