Rare disease trials create common burdens

By Jenni Spinner

- Last updated on GMT

(Image: Getty/Chinnapong)
(Image: Getty/Chinnapong)

Related tags Rare disease Clinical trial costs Patient centricity

In time for Rare Disease Day, orphan-disease patients, site managers and service providers discuss challenges obstacles faced in trial participation.

Saturday, February 29 marked the 13th annual Rare Disease Day. The worldwide awareness effort seeks to build understanding of challenges associated with rare (or orphan) diseases, including the importance of clinical trial participation. The campaign also works to drum up greater support for such diseases in various corners of the medical community.

Outsourcing-Pharma spoke with patient, trial site and solution provider representatives about rare diseases. These experts shared their views on common participation challenges, how they can become amplified for rare diseases, and how sites can help reduce such burdens.

Trial site troubles

MACRO Trials, a Beverly Hills, CA-based site optimization organization, assists sites with conducting trials. Its work in the rare-diseases realm includes facilitating trials for Graves’ orbitopathy, or thyroid eye disease.

Daniel Perez, COO of MACRO Trials, explained to Outsourcing-Pharma a condition is considered a 'rare disease' if it affects less than 200,000 patients worldwide. As a result, trials involving such diseases draw from extremely limited patient pools, and participants often must travel massive distances to take part.

For our site, about 20% to 35% of our patients are ‘local,’ defined as living within a 50-mile radius​,” he told us. “One of our patients would fly in from Australia for our trial. More recently, one patient leaves NYC on a red eye flight, receives treatment in our clinic in Beverly Hills by about 10 or 11AM PST and is back on their flight back to NYC later that same evening to make it back to work the next day​.”

Such efforts, Perez said, pose a burden for anyone—a burden that can overwhelm when a patient is dealing with an orphan disease. He reported MACRO Trials works to ease such burdens in numerous ways. For example, the company uses Greenphire ClinCard solutions to help cover travel costs, reimburse expenses, and more.

Patient perspectives

At 17, Kyle Bryant was diagnosed with Friedrich’s ataxia (FA), a rare, life-shortening, degenerative neuromuscular disorder. Now 38, he has become a patient advocate on behalf of the estimated 50,000 Americans with FA. In 2007, he founded rideATAXIA, a 2,500-mile bicycle ride fundraiser, to raise funds and awareness.

Bryant told us he has gladly taken part in every trial available to him since 2003, adding he thinks the FA Research Alliance does great work in making trial info available to everyone possible. Still, he said, taking part in trials frequently throws up obstacles.

Giving up time out of my schedule is a big burden​,” he said. “Travel is also a big burden in trials. The scheduling can be a nightmare with multiple visits and the cost can pile up,” ​he said. "One of the first questions I ask when considering participating in a trial is, ‘Is travel covered and do I need to schedule my own​?’”

Bryant pointed out trial participation for patients with FA and other rare diseases presents unique challenges, thanks to such trials being limited and typically spread across the country. Trial managers can ease participation burdens for patients, he pointed out, by considering travel, time, mobility issues and especially financial issues.

“Getting reimbursed quickly is a significant way to reduce the burden,”​ he said. “Having a simple and reliable system for reimbursement can significantly reduce the cost burden of the trial."

Sabina Kineen deals with Fabry disease, a rare genetic condition impacting the skin, eyes, kidney, heart and other systems. Her two children also live with medical challenges—one also has Fabry’s disease; the other Ehlers-Danlos syndrome, Hashimoto’s disease and a neurofibroma plexiform tumor. She told us trial participation creates difficulties for patients, especially regarding finances and logistics.

We had to make a great deal of sacrifices over the years, including me leaving a lucrative job. I needed the flexibility, not only to take part in the trial, but to care for the needs of my children. We chose to make these sacrifices because we knew many others would not be able to​,” she said.

Financial fixes

Jim Murphy, CEO of Greenphire – a technology company offering solutions for patient payments and travel – told us the industry has made strides in working to lessen participant burden.

For years, rare disease clinicians worked to shield their patients from avoidable burdens by taking on a range of administrative tasks related to patient travel coordination and expense reimbursement​,” he said. “In recent years, sponsors have taken action to eliminate these burdens from both patients and clinicians by providing access to automated payment and travel planning tools​.”

Murphy told us automated payment functions, travel assistance and recent developments like special ridesharing programs for patients help in several ways. For one, these enhancements eliminate concerns around travel and out-of-pocket costs needed to get to the clinic. Additionally, he said, they reduce the time staff needs to spend on administrative tasks, leaving more time for care.

Participant input

Kineen encouraged clinical trial administrators and staff committed to ease the burden of participation placed upon rare-disease patient by turning to one powerful resource: the patients. By asking for and incorporating patient input, she told us, trial administrators can achieve benefits for all.

Involving patients right from the beginning while designing the trials is in the best interest of both sponsor and participant​,” she said.

Bryant added patient advocates like him and Kineen are highly motivated to finding effective treatments and helping however they can.

We are committed to working with sponsors and clinicians and coordinators to reduce the burden of clinical trials so we can all cross the finish line more quickly​,” he said. “We are placing our piece of the puzzle by supporting each other, participating in research, and raising funds to advance science. We refuse to sit around and wait for the treatment to come to us​.”

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