I was fortunate to be able attend the @NationalOrganizationforRareDisorders Rare Diseases + Orphan Products Breakthrough Summit (#NORDSummit) on October 17-18 in-person in Washington, DC via a full scholarship. During this highly anticipated annual conference, expert rare disease leaders covered critical topics and the life-changing experiences of millions of Americans impacted by rare disease.
Pre-conference, on Sunday, over 100 participants, all from NORD member organizations, gathered to share their organization’s story and were welcomed by Director of Membership Debbie Drell and NORD’s President & CEO Peter Saltonstall. Both expressed gratitude that we were able to gather in person this year after a two-year hiatus during which this meetings were held virtually. The 2022 Summit was featured as a hybrid event and participants could view selected presentations via Zoom.
The conference officially opened Monday morning with a greeting to the general audience by Mr. Saltonstall, and then proceeded with three patient/caregiver testimonies in a segment entitled ‘Finding Our Community.’ Brittany Clayborne (Peripartum Cardiomyopathy and Post-Transplant Lymphoprolifertive Disorder), Nakishka Isom (Living with Holt-Oram Syndrome), and Annie Papik (MTHFS Gene Mutation) shared their personal journey into patient advocacy. Their stories stressed the value of helping children live with their differences, getting help with the emotional burden of living with a rare disease, and having the stories of rare disease patients told in all the spaces of rare disease including clinical trial prep and when guidelines are being established.
US FDA Commissioner Dr. Robert Califf followed this presentation reiterating the FDA’s commitment to faster drug approval for rare disease treatments and devices while maintaining high scientific and evidentiary standards, sharing that 50 novel drugs were approved in 2021. He expressed high regard for patient input on clinical trial designs, the significance of real world data, and the critical nature of biomarker development. He shared updates on the joint project funded the FDA, and implemented by the Critical Path Institute and NORD called RDCA-DAP (Rare Disease Cures Accelerator-Data and Analytics Platform) which has continued to make significant progress and is evolving as the platform grows. RDCA-DAP promotes the sharing of existing patient-level data and encourages the standardization of new data collection. RDCA-DAP houses integrated patient-level data from diverse sources, including clinical trials, longitudinal observational studies, patient registries and real-world data (e.g. electronic health records) across a multitude of rare diseases.
After the Commissioner’s presentation, participants spread out for meetings that included topics such as Advancing Global Access to Diagnosis, Medicines & Care, Strategies for Enhancing Diversity, Equity and Inclusion in Rare Disease Research, an NIH Town Hall Meeting, and several other sessions focusing topics such as gene therapy, and newborn screening,
Many breakout sessions and lunch and learn sessions were available to participants, and for the LRG, I attended a session on Mental Health & Rare Cancers, moderated by our Rare Cancer Coalition Co-Chairs, John Hopper (Fibrolamellar Caner Foundation) and Jim Palma (TargetCancer Foundation). Panelists shared that we need to intentionally make space to talk about mental health and normalize the conversations around mental health. Also stressed was the need to identify what are normal reactions to a cancer diagnosis versus a clinical mental health issue, and actually starting conversations about mental health before the need arises for these services.
Other sessions that held value for the LRG community were discussions about Patient Registries and the value that we give back to patients through side effects reporting, and leveraging data for clinical trials. The value and use of real world evidence and real world data was discussed in several sessions and provided many points for discussion in reference to patient registry data. And near the end of the conference I was able to participate in a discussion about hybrid events and fundraising, which raised a lot of good ideas for 2023. The conference ended with a fireside chat with FDA Center Directors as they talked about their centers’ current focus.
The NORD Breakthrough Summit is held each fall and welcomes patients, caregivers, medical and healthcare professionals and patient advocacy organizations. More information about the Summit can be found at: https://rarediseases.org/
