The NORD Breakthrough Summit took place in Washington D.C. earlier this week, and as always, it was informative and inspiring!  The International Foundation for CDKL5 Research has been part of the National Organization for Rare Disease (NORD) for many years. This meeting is always a wonderful opportunity to network and meet with rare disease patients, non-profit leaders, and industry representatives to learn and find ways to work together to help support and make advancements in the rare disease community. One might ask, why is the IFCR involved with NORD, as it is not focused on CDKL5 Disorders? The answer is simple: When all rare disease community members join together, we are no longer rare…we are mighty! In particular, our voices are much louder when the whole rare disease community works together to lobby for improved government policies related to developing treatments, providing access to those treatments, and providing support for patient families and caregivers.

It is always clear from this meeting there is much work to be done to improve treatments and access for the rare disease community. Policy advocacy is one of the ways we can make a difference. Sharing our stories and connecting those stories to the needed policy is what will drive this forward. We are given opportunities to engage through NORD and other organizations working in this area (e.g., EveryLife Foundation and Epilepsy Action Network). If you are interested and would like to get more involved, please let us know by emailing kutley@cdkl5.com.

Now for some of the highlights!

The theme of the meeting was “Equitable Access to Innovation,” and the theme was carried throughout each session. One session, “Bringing Research to Patients to Be More Inclusive,” resonated with many. During the commentary/question period, Karen Utley, our president, had the opportunity to provide comments bringing attention to the fact that many of those affected by CDKL5 Deficiency Disorder and other developmental epilepsies are not able to participate in clinical trials. Severe disabilities and compromised health issues create barriers to travel and limit options for families. The concept of decentralized clinical trials–trials that allow participation from home or local clinics–should be explored. It was pointed out that many trials saw success with this during COVID, yet as the pandemic subsided most trials returned to requiring patients to travel to trial sites.  There is acknowledgment that change is needed to help make clinical trial participation more equitable, and we need to make our voices heard on this to help drive the change.

Another session that applies to our community was, “Navigating the Coverage Hurdles to Rare Disease Access.” The discussion around the constant hurdles of pre-approvals, denials, appeals, and the constant fight to get coverage for needed treatments and services was too familiar to all of us. The hours and efforts spent on these things are a recognized burden and we need to continue to advocate for action to change this.

One of the most highly attended sessions was, “Can We Make Gene Therapy More Accessible?” There was thoughtful discussion around the challenges of bringing treatments from mice to humans. Equally important is how to improve manufacturing and ensure equitable access to life-saving treatments when they are available through clinical trials and eventually approval. Gene therapy is an area with rapid learning and discovery, which is wonderful. However, we all want advancements to be safe and effective. There was acknowledgment and healthy discussion of the ethical challenges related to drug development and clinical trial participation.

One concept that received resounding agreement was the importance of all stakeholders–including government representatives, industry professionals, patients, caregivers, and advocacy leaders–collaboratively engaging early and often. This will lead to a better understanding of the patient journey, and what changes and improvements are meaningful for the communities. The IFCR works diligently to make our voices heard, and partnering with organizations like NORD helps accomplish this. You can read more about some of NORD’s Public Policy work here.