Uniting for Rare Disease Day: Advancing Research and Empowering Patients

Each year on the last day of February, the rare disease community comes together to recognize Rare Disease Day. The day serves as a global movement to raise awareness, drive research, and amplify the voices of the 300 million people worldwide affected by rare diseases. It helps acknowledge both the challenges rare individuals face and the resilience they continuously show. Since there are more than 10,000 known rare diseases—and 95 percent of those lack an FDA-approved treatment—the need for collaboration, advocacy, and scientific innovation has never been more urgent. 

Rare Disease Day is also a reminder that no one should face their diagnosis alone. It shines light on the importance of uniting patients, caregivers, researchers, industry leaders, and policymakers to accelerate safe development of treatments and improve patient outcomes. One way to help move the needle in this pursuit is by participating in events that bring stakeholders together—events like ASGCT’s inaugural Empowering Patients 2025: A Cell and Gene Therapy Summit, which will take place March 12 and 13. 

Cell and gene therapies (CGTs) hold tremendous promise for many rare diseases, but developing these therapies is often complex. Clinical trials for rare diseases face distinct challenges such as limited patient populations, difficulties in trial recruitment, regulatory hurdles, and the need for innovative trial designs. That’s why ASGCT’s Empowering Patients Summit is an ideal space for anyone in the rare disease community. This virtual event will feature critical discussions on CGT clinical trial design, patient-centered development, and regulatory efforts to advance therapies. 

For those focused on the future of CGTs for rare disease treatment, these must-attend sessions at Empowering Patients 2025 will provide insights, strategies, and opportunities to drive meaningful change: 

• Complexity of Clinical Trial Design – Clinical trials for rare diseases must be carefully designed to ensure the best possible outcomes for patients. This session will feature clinical trial experts discussing eligibility criteria, dosage considerations, and the use of placebo or external controls, shedding light on how these decisions impact potential participants.  

• When Innovation Stumbles + Pathways Forward – What happens when a promising CGT therapy is deprioritized, or a trial is discontinued? This session will explore the state of commercially pre-viable therapies and offer perspectives from both clinicians and patient advocates on potential solutions and next steps. 

• Fireside Chat with Regulators – Regulatory challenges are a key hurdle in rare disease treatment development. In this session, FDA leadership will share insights on patient experience data, the new Rare Disease Innovation Hub, and expedited approval pathways, providing an opportunity for stakeholders to engage with those involved in the regulatory process.  

• Exploring Goals of Care and Personal Values when Considering CGT Clinical Trials – Navigating the decision to participate in a clinical trial can be overwhelming. This session will help patients, caregivers, and advocates understand common dilemmas, manage expectations, and make informed choices when considering investigational CGT treatments. 

Rare Disease Day is more than just a day. It is a call to action for us to support research, push for policy changes, and empower patients in their journey toward treatments.  

Join us at ASGCT’s Empowering Patients Summit and be part of conversations shaping the future of CGTs for rare diseases. Together, we can turn awareness into action and empower the community of stakeholders to push for continued support of scientific research. 

Learn more and register here.  

Alexis is ASGCT's Advocacy Programs Manager.