360° Support for Patients with Rare Diseases: A Clinical Development Q&A

Rare Disease Day 2015 - Clinical Development Q&A

360° Support for Patients with Rare Diseases: A Clinical Development Q&A

On February 28, patient communities around the world will celebrate Rare Disease Day to raise awareness about rare diseases and their impact on patients’ lives.

At UBC, we provide services to thousands of patients with orphan or ultra-orphan conditions. In support of Rare Disease Day, we’ve asked a few of our employees how their work makes a difference in the lives of patients with rare diseases. This is the first part of the series. Be sure to check out parts 2 and 3.

Joel Roberts, Project Manager
Patient & Physician Recruitment & Retention
London, UK

Rare Disease Focus: Familial hypercholesterolemia (FH) is a genetic condition that impacts the body's ability to remove the cholesterol that the body naturally produces. As a result, blood cholesterol levels are significantly elevated. There are two forms of the disease: heterozygous FH (HeFH), in which the genetic defect causing the impairment is inherited from one parent; and HoFH, in which the genetic defect is inherited from both parents. HoFH is the most severe form of the disorder.

Number of patients with FH: The prevalence of heterozygous FH is approximately 1 case per 500 persons. The prevalence of homozygous FH is 1 case per 1 million persons.

Q. Can you briefly describe your role at UBC?
I am the project manager for a team responsible for supporting patients and sites in a study investigating treatment for FH. We develop materials investigators can use to inform their patients of the study. We identify which sites and which geographical areas are most likely to result in the greatest number of enrollments. We also support sites so they can remain active with engaged patients.

Q. How is UBC supporting the development of medications with orphan and ultra-orphan indications?
At UBC, we work with life science companies to help them develop a drug, take it through commercialization, and demonstrate its post-launch value and safety. Many of the molecules and products we support are for the treatment of rare diseases.

Q. What types of materials do you develop, and how do they keep patients informed and engaged?
We develop materials that help generate interest in the study and let patients know they can be part of vital research. We also develop materials that help make being part of the study as easy as possible for patients.  Our materials allow an investigator to open up a discussion with patients and, depending on the type of material, share a little or a lot of details about the study. We put together a quick reference guide that lists the essential elements of study visits and what patients can expect. We also have health and safety monitoring guidelines, appointment reminder cards, and patient study guides, among other materials.

Before a patient enrolls, we want them to be fully informed of what the study entails and how the data will be used. We don’t want there to be any surprises for the patients. The better informed they are, the more likely they are to remain in the study. In rare disease studies, maintaining patient engagement is critical.

Q. What unique challenges do patients with rare diseases face?
Two main challenges come to mind.  First, many patients with rare diseases have faced weeks, months, or sometimes years of symptoms before receiving an accurate diagnosis. Many have done a lot of research. They’re very aware and well-informed. Often, they’re connected to an online community. Before they agree to be part of a study, many discuss the decision with other patients as well as family and friends. 

Second, these patients often must manage multiple lines of care. FH patients typically have a physician, a nurse, a dietician, and a hepatologist. Their course of treatment is pretty intense, and many feel overwhelmed. We don’t want to put additional burdens on them, so we make study participation as easy as possible.

Q. What can be done to take the burden off patients and keep them engaged in the study, especially long-term studies?
An important way we take the burden off patients is by coordinating transportation to the site. In our FH study, patients are asked to get a specialized heart scan to help evaluate the long-term effect of arterial sclerosis.  The scan equipment is available only in a limited number of sites. Patients may have to travel 25, 50, or even 100 miles to have the scan administered. On behalf of the sponsor, we remove the cost and burden to the patient by managing transportation. We make it simple and straightforward, so they don’t have to arrange transportation tickets or pay for gasoline. We take that burden off sites as well.

We’ve learned that thanking patients for their time and providing small tokens of appreciation are important ways to keep patients engaged and active in a study. In our communications with patients we are mindful to thank patients for choosing to be part of our studies. When we are asking patients to give up long periods of their time or undergo procedures outside of the usual standard of care, financial compensation may be possible. For other studies, when demands on the patient may not be as significant, a smaller gesture of appreciation may be more appropriate. For example, our FH patients receive a cookbook, filled with recipes for very tasty, healthy dishes.  These patients must be very diet conscious, so the recipe book has been much appreciated.

Saying thank you really doesn’t take much of an effort, but it can make a significant difference in study success.