Patient identification, recruitment and engagement are a struggle with any trial, no matter the condition at the center of the research. When the planned study involves a rare disease, the obstacles become even more formidable, thanks to a smaller population to find and draw from, patients scattered all over the country (or even the globe), and people with the disease in question are more likely to be faced with mobility issues, fatigue and other challenges.
Karmen Trzupek, director of rare disease genetics and clinical trial services for InformedDNA, spoke with Outsourcing-Pharma about how the help of genetic specialists can make a difference in clearing some of the toughest hurdles associated with patient identification, recruitment and retention in rare disease research.
Traditional ID and recruitment, Trzupek said, can fall short of the mark in a number of ways.
“This process leaves out so many patients—those managed in a home community, the economically disadvantaged, and fragile patients who don’t want to travel or find it risky,” she said. “It’s one thing if you’re trying to recruit for, say, diabetes; it’s another thing entirely when you’re talking about rare diseases.”
She pointed out a lot of sites and sponsors have turned to direct-to-patient marketing, such as ads on bus shelters and in train cars, social media ads, and more.
“There are times when these activities can work, but generally it doesn’t make sense—you’re basically throwing an idea at the wall,” she remarked.
Such efforts, Trzupek said, can be effective, but they risk a high screen failure rate; patients may show up at the onset of a study and don’t even have the diseases intended to be researched.
“These efforts need to be conducted by people that know the disease and can really engage, that really understand the disease and the patients,” she told us.
Another form of outreach, physician education, can also provide another pathway for successful recruitment, but considering the amount of information doctors are inundated with on a daily basis, they rarely yield results—especially when rare diseases are involved.
“We need to step back and ask, ‘What are the ways clinical trial programs are executing these kinds of efforts—what’s working, and what’s not? How can we change the model?’” Trzupek said.
Another danger, Trzupek said, is the trial team’s failure to consider the unique challenges faced by the patients they are trying to reach. Finding them is only one step and not a guarantee of bringing them into the study.
“As a patient, the reality is if you have a complex condition or even multiple conditions, it can be too much to take on,” she pointed out. “You think, ‘Right now, I’m managing this condition, and I’ve got my whole other life to deal with.’ You can’t assume finding enough of patients with the condition is going to fulfill the trial, especially when some of them can’t travel to the site.”
Trzupek pointed out that genetic screening, testing and counseling can help better identify and connect with potential patients in trials. Also, tools like telemedicine can help shorten the distance between the trial team and the patient from hundreds, sometimes thousands of miles, to just a computer-button away.
“When you’re talking about a clinical trial for a rare genetic disease, inclusion will usually almost always include genetic testing,” she said. “For many diseases, there are many genes—for example, early-onset ALS can be caused by any one of five different genes.”
Additionally, Trzupek said, the more complex genetic diseases can involve hundreds of genes; can make screening a formidable challenge—one that genetic counselors using telemedicine can reduce.
“When you implement genetic counseling, testing interpretation, the effort becomes that much more effective and efficient,” she said. “We also find patient engagement is higher in that paradigm; the patient knows they won’t have to take time off of work or travel and know they’re a good candidate for that trial.”
Genetic counselors, Trzupek explained, are trained professionals with experience and knowledge in genetics as well as interpersonal interaction with patients. The combination of specialized knowledge related to genetic conditions and the skills as an interpersonal counselor, she said, can help clear away some of the mistrust and fear a potential might feel when first approached.
“There’s an irony in that patients are generally wary of the pharma industry, but many are eager to consider novel approaches to therapy,” she said. “What they’re really looking for is a trusted partner.”
Trzupek pointed out that a genetic counselor is not in the position of trying to convince the potential patient to enroll, only to answer their questions and address concerns.