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Pharmaceutical Funding for Rare and Orphan Dermatologic Diseases

There are over 30,000 known human diseases varying in commonality and severity. Some of these diseases affect millions of people every day, while others affect less than 1,000. With all the diseases that need to be treated, there needs to be funding to get these diseases researched and treatments made for every last one. But what happens in the pharmaceutical industry is that the most funding goes to the most common diseases. Some rare diseases that affect less than 200,000 people need to rely on awareness to get the funding they need. These are called orphan diseases. There are some well-known orphan diseases like ALS, cystic fibrosis, and Tourette’s Syndrome. And there are some unfamiliar ones such as Trimethylaminuria, Recessive Dystrophic Epidermolysis Bullosa (RDEB), and isovaleric acidemia.[1]

 

Many have debated whether ultra-rare diseases deserve special status for funding. “A key issue around whether public funding should support the provision of ultra-orphan drugs is whether the rarity and gravity of the condition represents a rational basis for applying a different value to health gain obtained by people with that condition,” states Professor D.A Hughes of the Oxford University Press.[2] Basically if the research will help more than just the patients, then it deserves funding, but proving that can be tough. The problem is with equity and awareness. When only a small number of people are affected by a debilitating disease, in many cases only some patients are eligible for the usually very limited ultra-orphan drugs, which means the costs to make the drug increase. Also many times insurance companies do not cover the treatments for specific rare diseases. Because some diseases are so rare, most haven’t even heard of them and if there are fundraising foundations or nonprofits for them, awareness is low.

 

An example is trimethylaminuria, which is a disorder in which the body is unable to break down trimethylamine. Trimethylamine is a chemical compound which when not broken down exudes a fishy, pungent odor. Those with trimethylaminuria will experience a build up of the compound in the body, which causes those affected to give off a strong odor in their sweat, urine, and breath. Some people with trimethylaminuria experience depression and social isolation as a result of this condition. There is currently no cure or treatment options for this disorder and that can be linked to lack of funding. In fact, the Human BioMolecular Research Institute stopped taking samples from sufferers due to lack of program support and funding.[3]

 

Funding rare diseases may seem like throwing money at a lost cause. But what many find is that finding treatments for rare diseases and studying them actually help in more ways than one. A member of NORD's Medical Advisory Committee and professor Doris Zallen says, 

"rare diseases, because they often have a singular genetic basis, present unique scientific opportunities for discovering and understanding gene action without the confounding factors that characterise the common disorders (factors such as contributions from multiple genes, environmental influences, diet, smoking and other life-style choices). The study of rare diseases has already provided fundamental understandings of genetic systems, biochemical pathways, and DNA-repair mechanisms that have helped elucidate the basis of and improve treatments for common diseases."[4]

Studying and funding of rare diseases can actually open doors for more treatments for common diseases as well as rare counterparts. So, maybe if more funding were to go to the most rare diseases without the red tape, we could cure and treat many more.

 

 

 

References:

[1] Hughes, D.a. "Drugs for Exceptionally Rare Diseases: Do They Deserve Special Status for Funding?" Qjm 98.11 (2005): 829-36.

[2] ibid.

[3] "TMAuria." TMAuria. Human BioMolecular Research Institute. (2015).

[4] Timmis, Oliver. "Why Is Rare Disease Funding Rare?" Pharmaphorum. AKU Society, 24 Oct. 2013.

Caitlyn