How to Solve the Rare Disease Treatment Problem

As most readers of this site are probably aware, a “rare disease” is classified in the United States as one that affects fewer than 200,000 people.

It’s estimated there are somewhere between 6000 and 7000 rare diseases in the world, and 95% of them don’t even have ONE FDA-approved treatment.

Damon Wayan's "What?"
95% of rare diseases have NO FDA-approved treatments? NONE?

Let’s think about this…

200,000 people x 7000 rare diseases x 0.95 = up to 1.33 BILLION PEOPLE who are chronically ill and don’t have an approved treatment.

Guys!!! WHY???

According to a very comprehensive article in PharmaVoice (which I encourage you to read), there are several factors at play:

  • It doesn’t help that each disease has a small patient population that’s spread out around the world. That makes it hard to identify patients, and if you can’t identify patients how is anyone expected to actually learn about the diseases themselves?

  • The lack of easily accessible information for rare diseases forces drug developers to perform natural history studies, where they:
    • Identify a group of individuals who have or are at risk for developing a specific disease
    • Follow that group over an extended time in order to learn the natural course of the disease, ideally from the time prior to onset until the disease has run its course—when each patient is either cured, chronically disabled, or dead
Snowpeople at least stay in one place... it's not easy monitoring real people over the course of their lives. Source
Snowpeople at least stay in one place… it’s not easy monitoring real people over the course of their lives.

Natural history studies help provide the necessary background information on diseases, which can eventually lead to the development of a treatment…but they take time.

  • It also doesn’t help that doctors themselves don’t really know much about rare diseases. According to Frontline Medical Communications, the average number of patients with a rare disease for any one doctor is… wait for it… 12! Twelve people, each with one of 6000-7000 rare diseases. That doesn’t even mean all 12 have been diagnosed, either. Of course doctors don’t know jack (in this instance)!
You may be just one unfamiliar, rare needle in your doctor’s giant haystack of patients with familiar conditions. On average, doctors only have 12 patients in their practices who have a rare disease.

Thankfully, Denise Myshko also compiled some potential solutions to the lack-of-treatments problem:

  • 21st Century Cures is a bipartisan initiative within the House of Representatives aiming to advance research and speed the development of new treatments/cures. This can be done by:
    • Getting patients more involved in the process
    • Removing roadblocks that prevent collaboration between researchers, innovators, and providers
    • Increasing funding for the NIH and FDA
  • The Senate Health Committee is also taking a look at the currently laborious process for getting new products into the hands of patients
  • Patient advocacy groups—and the formation of patient advocacy groups in rare diseases where none currently exist—could help compile necessary information to aid in the research and development process, and also increase communication between patients and healthcare providers to ensure that needs are being met

James Ernest Cassady

James Ernest Cassady

Though "Ernest" is a family name that's been passed down for generations, James truly earned his middle moniker when, at the age of five, he told his mother that "laughing is stupid unless EVERYBODY is happy." Since then, the serious little bastard has been on a mission to highlight the world's shortcomings (and hopefully correct them). In addition to his volunteer work at hospitals and animal shelters, James also enjoys documentaries and the work of William Faulkner. He is originally from Oklahoma.

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