On rare diseases and medicines access

Rare diseases have different definitions around the world. Rare diseases in Europe are considered to affect 1 person per 2000. A disease can be rare in one region, but common in another. In the US, a rare disease is defined as one that affects fewer than 200,000 people. 

Is it believed that six to seven thousand rare diseases exist today. Orphanet describes rare diseases as: “... serious, often chronic and progressive diseases. For many rare diseases, signs may be observed at birth or in childhood, as is the case of proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome. However, over 50% of rare diseases appear during adulthood, such as Huntington's diseases, Crohn disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi's sarcoma or thyroid cancer.”

Accessing medicines for rare diseases is complex and includes two facets: approvals and affordability. 

From an approval aspect, regulatory bodies do have a system in place to support the expedited approval of medicines being researched for the treatment of rare diseases. One example is the designation of “Orphan Medicines''. Orphan medicine is defined by the EMA as a new treatment for rare diseases that requires special attention and support in development and authorisation.

The FDA states that an orphan designation is given for a particular special medicine at the request of the pharma company that is sponsoring the trial. This provides the pharma company with many benefits such as tax credits. In order to receive this designation, several criteria should be met. One of these criteria is to ensure that the disease or condition for which the medicine is intended affects fewer than 200,000 people in the United States. This designation is mainly directed at treatments for rare medical conditions which fail to become profitable to produce without government assistance. 

From an affordability aspect, there is a lot of work that needs to be done. The issue remains that because rare diseases do not affect a large part of the population, the research efforts are not always properly funded. Additionally, trials for rare medicines are often extremely costly and time laborious. This results in very high prices for innovations that actually might benefit patients. But due to high cost and discussions about ‘what is the price of a life’ many patients are excluded and suffer or die whereas the medicine that could save them is available. As humanity we can not allow such inequality. What if it happened to be your child?

Populists put the blame on pharma greed. The reality however is far more complex. At TheSocialMedwork, we believe that the only way to help rare disease patients is for all of us to take responsibility. Regulatory bodies, pharma companies, healthcare innovators and healthcare systems around the world need to work together to develop great innovations that are accessible and healthcare reimbursement systems that make them affordable for everyone. 

Are you involved in developing innovations for rare diseases? Or are you a payor struggling with value based pricing? Let’s discuss.

Thanks for reading.

-S