Rare Disease Day is the biggest day of the year for the rare disease community. Since 2009, the National Institutes of Health (NIH) Clinical Center and National Center for Advancing Translational Sciences (NCATS) have hosted Rare Disease Day at the NIH as part of the global observance.
The energy and passion to work together were apparent among the researchers, physicians, regulators, and most importantly, patient advocates throughout the day. It was an opportunity to collaborate, learn from one another, and celebrate the work already accomplished. Most importantly, this day enables us to be reinvigorated in our passion to advance treatments for rare disease patients and reminds us that the patient is the central point of our work.
Dr. Christopher Austin, Director of NCATS, began the day by saying, “this is a special day as we recognize the great work of the rare disease community and celebrate the remarkable unity of purpose among this community.”
Here is a snapshot of some key themes:
Putting a Face on Rare Diseases
Patricia Weltin, CEO & Founder of Beyond the Diagnosis, brought the faces of rare disease patients to the forefront through the Beyond the Diagnosis Art Exhibit. This exhibit aimed to put a face on rare disease by sharing intimate portraits of children with rare diseases. It provides a powerful message that can’t be forgotten in our work – understanding the patient is critical.
Stephanie Feinberg, who works for The Children’s Inn at NIH, introduced Amber, a pediatric patient at the NIH and a Children’s Inn resident with a highly rare, incurable genetic disease called giant axonal neuropathy (often referred to as a child form of ALS). A groundbreaking gene transfer trial at the NIH is giving Amber and her family hope.
Collaboration is Key
The importance of the collaboration of industry and academia with patient advocacy groups was apparent throughout the day and this message was shared across several sessions.
Dr. Seema Aceves and Ellyn Kodroff shared perspectives from the collaboration with Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) and the CURED Foundation, which supports patients with Eosinophilic Gastrointestinal Disorders. Dr. Aceves, echoed, “patient advocacy groups play a critical role in connecting patients to trials, shaping research, identifying gaps in what really matters to the patient in addition to influencing policy and the research agenda.”
It is through the tremendous work patient advocates do that we can learn to understand the complexities of a rare disease, and allow us to effectively contribute and advance new drug developments for rare diseases.
Access and Inclusion
The challenges associated with access and inclusion in rare disease clinical trials are very significant. We must understand the impact on those living with a rare disease but also the family members and caregivers. These factors include taking medications, getting to appointments, daily activities for the patient but then factors for those who are caregivers and have to work alongside taking care of their family member.
Helen Hemley, Program Manager at the Community Access, Recruitment and Engagement (CARE) Research Center at Massachusetts General Hospital, shared her perspective of having a sibling with a rare disease. Access to care and knowledge of resources is a big challenge to consider in smaller, rural communities. Pediatrician visits would take 4+ hours. Helen noted, “designing trials to be more inclusive, making sure patient and family is aware of resources and ways that they can fit in in their day-to-day lives is so important. Having a “champion” and supporting caregivers is so important across the lifespan of a patient.”
UBC works with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. We work closely with patient advocates and cast a wide net utilizing social media to connect people who suffer from similar diseases and speed drug development by building awareness of clinical trials. We work to alleviate trial-related patient and caregiver burden by offering study participants the option of having site visits conducted at their home through our clinical trial nursing services; and by providing participant travel services to study visits using our concierge service.
To learn more about our big solutions for small patient populations, contact us to find out how UBC can help you do more for your rare disease patients.