When planning a clinical trial for a rare disease, it is important to have a holistic understanding of your patient population. You want to be cognizant of the patients’ backgrounds , and do the utmost to perceive what it is like to walk in their shoes. These patients need your trial just as much as you need them; even from the earliest stages, conceptualize your rare disease trial as an altruistic relationship between the patient population and your study. Initiating the conduct of clinical research in this space is challenging, given the paucity of available potential patients. Despite this fact, reports that “Despite these inherent difficulties in rare disease research, development of translational therapies, specifically those targeting rare genetic diseases, continues to increase. This is due, in large part, to legislative incentives that have stimulated considerable interest in rare diseases on the part of private capital.”1 Indeed, this is welcome news to the many individuals impacted.In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. There are about six to seven thousand unique rare diseases known today. That means that about 30 million people in the U.S. alone are suffering from a rare disease of some kind.

Most of the 30 million people in the U.S. living with a rare disease are facing it without any treatment, cure, or remedy. Unfortunately, 95% of rare diseases have not one single FDA approved drug on the market. This leaves rare disease populations in a very vulnerable position. The need for rare disease trials is dire.

A typical patient in the United States healthcare system has an experience that generally follows these steps:

  • They have symptoms that may be persistent and/or severe that cause disruption in their day to day life; for example, they may be getting numerous debilitating headaches
  • They decide to go to their doctor to see what is wrong
  • Symptoms are described to the doctor, and based on that a diagnosis is made; most often, medication is prescribed to alleviate the ailment

A rare disease patient in the U.S. does not have this experience. Oftentimes their symptoms are unheard of. Primary physicians don’t know how to diagnose them and instead refer them to a specialist. A single patient with a rare disease could be referred to a dozen specialists in an effort to figure out what is ailing them. It is common for it to take months or even years to receive a diagnosis.

When a rare disease patient is finally diagnosed, their journey is far from over. Typically, there aren’t any medications or treatments available to help them. This is where clinical trials come in.

Rare disease patients are, on the whole, very willing to participate in clinical trials. For many patients, these trials give them hope for possible improvement of their own condition, and increase the likelihood of a better future for others who are facing the same disease as they are.

You should treat your rare disease patients as partners in your study development process. They know their population better than anyone else, and can help you understand the biggest challenges facing their peers. Working in partnership with your patient population will ensure that the patient recruitment process is collaborative and successful.

How do you develop a clinical trial with rare disease patients in mind? Part 2 of this 3 part series addresses that question here.


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