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Every year, the rare disease community takes the time to observe Rare Disease Day—a day established to raise awareness for the more than 400 million people affected by rare diseases. The day is observed on the last day of February with events hosted by hundreds of patient organizations and drug development companies around the world, including PRA Health Sciences.

Key Highlights

At PRA’s Rare Disease Day event, Scott Schliebner, Senior Vice President of the Center for Rare Diseases, called for a change to the outdated clinical research operating model, which far too often treats patients as an afterthought rather than putting them at the center.

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PRA unveiled our new Patient-Centric Trial Development Toolkit—a collection of resources developed to help sponsors, patient communities, and other stakeholders operationalize patient centricity in clinical development—at Rare Disease Day 2021. Learn how these tools can help patients, researchers, and sponsors improve rare disease clinical research.

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Jayne Helfrick
Jayne Helfrick
Senior Marketing Writer

PRA celebrated Rare Disease Day in true 2021 fashion—virtually! This virtual format gave patients and advocates who may have otherwise not have been able to attend the opportunity to listen in and join the conversation from their own homes. We were delighted to interact with a more global and diverse audience.

This year’s event focused on the importance of clinical trial innovations and diversity and inclusion in rare disease research. In celebration of the rare disease community, the event also recognized our #RareResearchHeroes—the patients, family members, caregivers, and advocates who are helping to push the boundaries of rare disease research and bring meaningful treatments to these patients.

Scott Schliebner, Senior Vice President of the Center for Rare Diseases at PRA, opened up the event by highlighting some of the challenges rare disease patients and their families face each day—many of which were exacerbated in the last year due to the COVID-19 pandemic. He also called for a change to the outdated clinical research operating model, which far too often treats patients as an afterthought rather than putting them at the center.

“We can’t continue to do things the way we always have because the current clinical development metrics are dismal at best,” Scott explained. “The number of patients needed every year continues to grow. We now need 40 million patients worldwide for all clinical research. The impact of that means that more than half of clinical trials are delayed due to patient recruitment and 30% of patients drop out before a study ends.”

Scott also discussed the lack of diversity and inclusion in clinical trials, as well as how COVID-19 acted as an accelerant for the clinical research industry. “COVID-19 shined a spotlight on the actual challenges we have and has shown us that we’re operating in a very outdated way.”

The first speaker of the day was Jocelyn Ashford, Head of Cardiorenal Global Patient Advocacy at Eidos Therapeutics. Jocelyn opened her presentation by discussing how research around COVID-19 vaccines and treatments helped bring conversations about diversity to the forefront of the minds of those in the healthcare space, as well as to the general public. She emphasized that this wave of public and private interest gives the biopharma industry a unique opportunity to showcase what they do best—innovate to address unmet need.

Jocelyn discussed the need for progress regarding diversity in clinical trials, citing the FDA Final Guidance issued in November 2020 titled Enhancing the Diversity of Clinical Trial Populations—Eligibility Criteria, Enrollment Practices, and Trial Designs as a great starting point for practical advice for drug developers looking to focus on diversity in their research.

She also touched upon the importance of not just cutting and pasting industry-established best practices for study design. “Best practices are important, but let’s continue to challenge common best practices applied to clinical trial design, recruitment, and execution to ensure that we are not unnecessary and inadvertently excluding segments of the population we are looking to serve,” Jocelyn urged.

Best practices are important, but let’s continue to challenge common best practices applied to clinical trial design, recruitment, and execution to ensure that we are not unnecessary and inadvertently excluding segments of the population we are looking to serve.

Jocelyn Ashford, Head of Cardiorenal Global Patient Advocacy at Eidos Therapeutics

The next presentation came from PRA’s Chief Scientific Officer, Kent Thoelke. Kent discussed one of the greatest challenges in clinical trials—the barrier to entry for patients—and how we can incorporate technology to not only increase access to clinical research, but also make trials more diverse and representative of the patient populations they aim to help.

Kent shared how the traditional clinical trial process was designed 40 to 50 years ago when healthcare—and our lives—looked completely different. Today, many trials are still guided by these same, outdated principles even though technology and society have changed. Patients are demanding their healthcare be more convenient, and technology can help minimize many of the traditional barriers to entry and make clinical research a viable care option for patients.

COVID-19 is helping to accelerate this process. “What we have seen because of COVID is a rapid adoption worldwide of new processes and paradigms,” Kent explained. “It is critically essential that the drug development industry adopt those so that we can lower the barrier to entry to participate in research for all patients, and that we can expand access for diverse and inclusive populations to participate in research as well.”

It is critically essential that the drug development industry adopt those so that we can lower the barrier to entry to participate in research for all patients, and that we can expand access for diverse and inclusive populations to participate in research as well.

Kent Thoelke, Chief Scientific Officer at PRA Health Sciences

Attendees also heard from Dr. Terry Jo Bichell, Founder/Director of COMBINEDBrain. Terry Jo shared her family’s story about navigating the complexity of her son Lou’s diagnosis with Angelman Syndrome, a rare genetic disorder that can cause seizures, balance problems, sleep disorders, and severe cognitive disability. Angelman Syndrome occurs when the maternal gene on the 15th chromosome does not work right or is missing. Despite recognizing something wasn’t quite right shortly after Lou was born, it took over a year for Terry Jo’s family to receive his diagnosis.

Over the last 20 years, Lou has been in multiple natural history trials and his family hopes he will one day be able to participate in a trial where the paternal gene will be activated. Despite years of trial participation, it doesn’t get easier, especially as COVID adds new challenges and uncertainties. “Even for the most motivated family . . . it is really hard to participate in clinical trials,” Dr. Bichell said.

Even for the most motivated family . . . it is really hard to participate in clinical trials.

Dr. Terry Jo Bichell, Founder/Director of COMBINEDBrain

Following her story, Dr. Bichell led a fascinating roundtable discussion with Jocelyn, Kent, and PRA’s Kendall Davis, Manager of Patient Advocacy and Engagement, Jessica Wessel, Clinical Strategy Lead, and Marcelo Vaz, Director of Medical Affairs. The group discussed how we can deliver innovative technologies to those who may not have access to their own devices, where we can do better in terms of diversity and inclusion, and how we can continue to better include patients and advocates in the drug development process.

To end the day, Laura Iliescu, Patient Advocacy Lead, and Amy Raymond, Director of Therapeutic Expertise, both of the Center for Rare Diseases, unveiled PRA’s Patient-Centric Trial Development Toolkit—a collection of resources developed to help sponsors, patient communities, and other stakeholders operationalize patient centricity in clinical development. The tools were developed in collaboration with the Rare Disease Advisory Committee (RDAC) over an 18-month period which included extensive research and analysis.

The Patient-Centric Protocol Risk Assessment Tool provides sponsors and patient advocacy organizations (PAOs) with a structured approach for identifying the burden of participation for patients. This in turn helps identify risks in the protocol. The tool also provides effective mitigation strategies.

The Patient Involvement Value Dossier offers value-based rationale for engaging with patients for the clinical trial design. This tool offers tangible and concise examples that can help sponsors and patients align on their missions and bring momentum into the drug development process.

The Rapid Participation Burden Survey provides sponsors, CROs, and PAOs a quick, flexible, and validated DIY survey tool that can be used to assess the level of burden for participants.

Finally, the What to Ask When You’re Interested in a Clinical Trial: A Guide for Rare Disease Patients and Caregivers is a tool created for rare disease patients themselves. This guide empowers participants to have informed discussions with the study team and encourages them to speak up about participation burden and their support needs.

Together, these tools can help patients, researchers, and sponsors improve rare disease clinical research. PRA welcomes the feedback and guidance of others throughout the rare community to ensure these working resources are continually improved upon.

Rare Disease Day is a great opportunity for drug developers, patient advocates, and patients and their families to come together and discuss how we can improve rare disease research. We appreciate all of the attendees for listening in and joining our active virtual discussion and our presenters for sharing their wisdom and unique perspectives. We look forward to another year of advancements in rare disease research and sharing more of your knowledge, expertise, and stories at next year’s event!

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