This post was written by Hetal Vig, MS, MGC, CGC, Director of Research and Clinical Engagement
The 2024 NORD Breakthrough Summit focused on uniting leaders to discuss equitable access and innovation in rare disease. From October 20-22, it brought together more than 900 attendees in Washington, DC. This was my first NORD Summit, and I was thrilled to attend with Jim Palma, TargetCancer Foundation’s CEO. Here are some of our key takeaways.
Value of the voice of the patient
The opening remarks featured poignant patient stories that highlighted the struggles of rare disease. They also reinforced how paying attention to hidden insights and providing equitable care can make the difference between the right diagnosis and an ongoing diagnostic odyssey for rare diseases, such as perixomal disorders and Huntington’s disease.
In multiple sessions including the pre-summit member meeting and the NORD Rare Cancer Coalition lunch, the voice of the patient was viewed as a rich source of insight to inform research, drug development, and ongoing policy and advocacy efforts. For example, the NORD Rare Cancer Coalition lunch featured Dr. Amy Barone (FDA), Christine Vivelo (NIH/MyPART), and Carrie Graham (Coherus). MyPART network has 600 patients enrolled as well as 30 advocacy organizations to contribute to their rare cancer longitudinal study for pediatric and adult rare tumors. In addition, the FDA has funded several oncology initiatives to utilize crowdsourcing in the oncology community to identify clinically relevant questions using FDA therapies that can be answered in the next 5 years (Project 5 in 5).
All throughout the conference, there were common threads of collective learnings from the “zebra” stories that unite all stakeholders from government, industry, advocacy, clinicians, researchers, and policymakers. For example, hearing the patient voice regarding access to treatment and how policymakers need patient experiences and feedback to identify gaps in the healthcare system and find innovative solutions is critical.
Celebrating Rare Cancer Day
The Rare Cancer Coalition also sponsored a cocktail reception that celebrated Rare Cancer Day, and the bipartisan resolution that was introduced to Congress for the designation of September 30, 2024, as Rare Cancer Day. This was extra special to celebrate, as the resolution is a direct result of the consistent efforts by Jim Palma and John Hopper, co-chair of the Rare Cancer Coalition.
Informing policy change and making research inclusive
Robert M. Califf, MD, Commissioner of Food and Drugs, Food and Drug Administration (FDA), and Meena Seshamani, MD, PhD, Deputy Administrator and Director of the Center for Medicare at the Centers for Medicare & Medicaid Services (CMS) spoke about the process of drug approval to patient access. It was clear that there needs to be better evidence-based data in rare diseases to inform policy and have better outcomes. This fireside chat dovetailed nicely into the Bringing Inclusive Research to Patients panel discussion that featured TCF CEO Jim Palma. During this panel, Jim discussed the TCF TRACK study and how genomic profiling is being accessed by patients with adult rare cancers nationally. It was clear that, especially in rare cancers and rare diseases, more equitable access and inclusion in research is still needed. This important point was shared by fellow panel members including Joni L. Rutter, PhD – Director, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Kristin Schneeman – Senior Director, FasterCures, Milken Institute Health, and Jenifer Waldrop, MS – Executive Director, Rare Disease Diversity Coalition (RDDC).
Overall, this conference highlighted there is much work to be done in terms of equitable access to rare disease and rare cancer treatment. However, collective efforts across sectors will move the community further towards this mission. I was grateful for the opportunity to attend, and look forward to the work ahead.