Creating Understanding and Partnership in the Rare Disease Community

In my role as CRO Partner Manager II, I’m responsible for working with some of the industry’s largest contract research organizations to implement patient convenience programs. With an increasing focus on what’s needed to recruit and retain participants in clinical trials, momentum towards patient centricity has surged. In fact, in our survey last summer, 97% of respondents agreed that providing technology solutions for patient engagement in clinical trials can positively impact recruitment and retention.

While these trends reflect the prioritization of these services by the industry, it’s built on the needs of those participating in research – the patients and their caregivers. Nowhere are these programs more needed than those with rare diseases.

Facts and Figures: Global Incidence of Rare Disease

Rare diseases affect more than 300 million people worldwide, with 50% of those being children. Researchers estimate that there are nearly 7,000 of these conditions, many with limited, or no treatments at all. We live in a time of great innovation, bringing hope to the rare disease community for new treatments and cures.

Yet, unlike other trials, drug developers conducting research in this space are confronted with unique challenges when conducting rare disease clinical trials. For example, due to the low populations of those living with the condition, collecting sufficient data to ensure that a drug is safe and effective can prove difficult. Additionally, clinical trials are demanding on participants – requiring long stays and numerous procedures, often at lengthy distances from the families’ home.

Understanding Congenital Hyperinsulinism

To better understand the landscape of this important research, and to put ourselves in the shoes of rare disease families everywhere, Greenphire conducted our annual lunch and learn to commemorate Rare Disease Day 2022.

Greenphire employee, Jill Zinzer introduced us to the condition of Congenital Hyperinsulinism, and rare leader, Julie Raskin. Both women shared their personal stories as well as background on the disease.

The Children’s Hospital of Philadelphia defines HI as “a genetic disorder in which the insulin cells of the pancreas, called beta cells, secrete too much insulin.” There are several forms of HI, and the disorder is rare – occurring in just 1 in 25,000 to 50,000 babies.

Five ways to honor – and involve – the rare disease community

I was honored to interview Julie and Jill for the Lunch and Learn, and below I share with you five things that they shared about the CHI that resonated with me.

1. Impact of Community: When Julie’s son Ben was diagnosed with HI, there weren’t many resources to learn about the condition or an organization to connect with other families. That all changed when Julie and other parents used early social media channels, eventually formalizing their organization as Congenital Hyperinsulinism International. CHI offers a wealth of information to both families and the scientific community alike. Jill noted that when she found the CHI family support group, that she and her husband weren’t alone when learning of their own son’s diagnosis.
2. Patient Registries: CHI has a multi-national patient registry; their slogan is “you’re a researcher too.” However, before the registry was available online, they started with collecting information such as quality of life, medical and surgical experiences, birth stories and more on an excel spreadsheet. Today the registry has progressed significantly, as the first global patient-powered congenital hyperinsulinism (HI) patient-reported registry, consisting of a series of surveys with questions about health, treatment, development, and quality of life.
3. A Voice into Protocol Development: Thankfully, pharma sponsors are looking to make trials as patient-centric as possible, thinking of the convenience for both the participant of a clinical trial and their family. CHI offers a way for the industry to get feedback on trial design, bridging the gap between science and patient experience. For example, they frequently offer listening sessions with biotechnology companies between their staff and registry members. As Julie noted, they “bring the knowledge of what the companies need to do” from the perspective of those living with the condition.
4. Respect for Trial Volunteers: Julie’s son participated in a clinical trial when he was in college and for Ben, it was a way to reverse the negative feelings he had about the healthcare system given the many trips to the hospital he had experienced throughout his childhood. The bionic pancreas study at CHOP gave Ben the opportunity to be “on the same team as the researchers who were responsible for a super cool new treatment.” Plus, he received a stipend for participating, empowering him similar to holding a summer job.
5. Continued Advocacy: Julie isn’t just the Executive Director of CHI, she’s actively involved with NORD and the New Jersey representative for their Rare Action Network. Both through her work at CHI and NORD, she’s able to push for further research to be done.

The lunch and learn was informative and inspiring, leaving both my colleagues and I more energized than ever to put our best foot forward to serve the rare disease community. I challenge you to consider how to improve the clinical trial experience for patients and caregivers. What more can you do?

Learn more about Greenphire’s suite of patient convenience solutions, often leveraged for rare disease studies, to remove financial and logistical barriers for trial participants and caregivers.