10:00 AM | Registration + Networking Coffee/Breakfast

10:40 am | Welcome Remarks

10:50 AM | Keynote | “Fight Like a Mother – The Patient Advocacy Perspective”

• Amber Freed, Founder and CEO, SLC6A1 Connect
• Introduced by Chris Porter, Vice President, Government Affairs and Policy, Travere Therapeutics

How does a mother move forward after her baby is diagnosed with a rare disease that essentially ends his quality of life before it really started? Meet Amber Freed who founded SLC6A1 Connect to help fund and consolidate research and treatment efforts for this ultra rare disease on behalf of her son and the entire community of patients and caregivers it impacts. Amber is an example of what is possible with advocacy and is an inspiration for not only SLC6A1 advocacy but advocacy for all rare diseases.

11:15 AM | RDCC Panel |”The Business of Rare: State of the Industry”

• Bernard Gilly, Ph.D., Co-Founder and CEO, GenSight Biologics
• Jennifer Hawks Bland, Chief Executive Officer, NewYorkBIO
• Amanda Malakoff, Executive Director, Rare Disease Company Coalition (RDCC)
• Sulin Shah, JD, US General Counsel, PharmaEssentia
• Moderated by Patroski Lawson, CEO, KPM Group DC

As we enter the last quarter of 2022, we are reminded of the truly risky nature of running a rare disease biotech company. Beyond the risk of developing orphan drugs, conducting clinical trials, and getting approval – companies find themselves challenged to ensure broad patient access to their products due to restrictive coverage policies and delays in formulary coverage. While we know that the tremendous biotechnology innovations achieved in the last decade will deliver transformative treatments, the current public markets coupled with regulatory and policy uncertainty may stifle innovation and confidence in development pipelines. This panel discussion will explore the opportunities and challenges at hand in the rare disease biotech industry.

12:05 pm | Alexion Panel “Advancing Hope for Rare Diseases through Policy & Regulatory Reform”

• Tim Cote, MD, CEO, Only Orphans Cote and former Director, FDA Office of Orphan Products Development (OOPD)
• Heidi Ross, Vice President of Policy and Regulatory Affairs, National Organization for Rare Disorders (NORD)
• Katie Miller, Ph.D., Senior Economist and Reviewer, FDA Office of Orphan Product Development (OOPD)
• Moderated by Del Lebel, Head, US Government Affairs and Policy, Alexion Alexion, AstraZeneca Rare Disease

There are approximately 7,000 rare diseases, impacting an estimated 25 to 30 million individuals, however only about 7 percent of rare diseases have FDA-approved treatments. More can be done through regulatory actions and agencies to encourage the development of rare disease treatments. A sense of urgency exists to accelerate healthcare policy and regulatory reforms for the underserved rare disease community, to advance hope that they

will soon account for the unique challenges of rare disease treatment and development as well as better support the initiatives that have been game-changing for innovation like the Orphan Drug Act which will celebrate its 40th anniversary in January 2023. This panel will discuss the regulatory and policy challenges and opportunities with rare disease innovation and how biotech businesses, policy and business leaders can make a difference.

12:50 pm | Lunch + Networking

2:00 PM | BioAgilytix Panel | “Transforming Clinical Trials to Recruit & Accrue Rare Disease Patients”

• Kirk Lamoreaux, Principal of Cogenticity, LLC and Co-Author of Rare-X: The Power of Being Counted Report
• Yasmeen Long, Director, FasterCures, a Center of the Milken Institute
• Pam Moore, Executive Director, Maryland Sickle Cell Disease Association (MSCDA) and Patient Advocate
• Luke Rosen, Senior Vice President, Accelerated Development & Community Engagement, Ovid Therapeutics and Founder, KIF1A.ORG
• Moderated by Jim McNally, Ph.D., Chief Scientific Officer, BioAgilytix Labs

Over a quarter of rare disease trials were terminated between 2016 and 2020 due to low accrual rates, according to research by GlobalData, a leading data and analytics company. There are tens of millions of people living with rare diseases, yet identifying them for participation in clinical trials and engaging them so that they remain involved in the full trial is increasingly challenging. How do biotech businesses, especially emerging ones, innovate on behalf of the rare disease community if they cannot run successful clinical trials and get their pipeline treatments into development? This panel will discuss the challenges and opportunities for enrolling rare disease patients in clinical trials, and the solutions for timely change.

2:45 PM | Keynote | “Rare Disease, An Emerging Field of Medicine and Research”

• Marshall Summar, M.D., Director, Rare Disease Institute and Division Chief, Genetics and Metabolism at Children’s National Hospital
• Introduced by Tricia Sterling, Vice President, Patient Affairs, Aeglea BioTherapeutics

Dr. Summar is a true pioneer in caring for children with rare diseases. In his keynote address, he will share his perspectives from the frontlines of rare disease treatment and highlight the importance – and urgency – of paving a path forward to ensure scientific advancement and innovation can reach children living with rare diseases. Dr. Summar’s keynote will assess the recent and ongoing explosion of orphan drugs and highlight some of the current challenges, such as the cost and associated hurdles of running clinical trials, and the opportunities at hand to reach the full potential of the significant evolutions in medicine and research happening in the field.

3:15 PM | Stealth Fireside Chat |” Incentives, Investments & the Way Forward for Ultra Rare Disease Drug Development”

• Reenie McCarthy, President and CEO, Stealth BioTherapeutics
• Emily Milligan, Executive Director, Barth Syndrome Foundation

More than 90% of rare diseases do not have a viable treatment. Rare disease companies are dedicated to responding to the urgent needs of rare disease patients through the development of treatments, but it’s not easy. This is due to multiple factors, most prominently the lack of incentives for rare disease companies and the regulatory uncertainty that sabotages such incentives, especially for ultra rare drug development. The solutions for these issues lie within healthcare policy reform and how it can account for the unique challenges of rare disease drug development. Instead of a one-size-fits-all approach that unintentionally risks harming the ability to make treatments available, policy reform should preserve and support optimized research incentives to attract and maintain long-term investments in treatments and diagnostics. This panel discussion will explore how the lack of treatment options impacts this underserved patient population, the challenges and also the opportunities with drug development, and the current investment landscape.

4:00 pm | Closing Keynote

4:25 pm | Closing Remarks

4:30 pm | “A Rare Pairing” Reception, hosted by GenSight Biologics