Goodwin Rare Disease Symposium 2024

• Ken Rudd, Board of Directors, Children’s Tumor Foundation
• Moderators: Julie Tibbets and Matt Wetzel, Partners, Goodwin

From neurofibromatosis (NF) patient and member of the Board of Directors of the Children’s Tumor Foundation (Ken Rudd):

“We want to drive research to end NF, and what’s been happening a lot more recently is doing our best to work hard and hand-in-glove with biotech and pharma because it costs a fortune to develop a new molecule, test it, and make sure it works and we want to try to speed that effort, cut time in half, cut dollars in half, to get it done.”

“For those of you that own the rights to drugs, and are willing to let other people take them and use them and test them, please be open to that.”

On living with NF, Ken emphasized today how important it is to work on behalf of NF patients: “As a child, I didn’t want to associate myself too strongly with my disease because I wanted to define myself in other ways, but as an adult and a professional I can give my time and expertise and it has been a remarkable time and journey.”

• Karin Hoelzer, Director of Regulatory Policy, National Organization for Rare Disorders (NORD)
• Moderator: Matt Wetzel, Partner, Goodwin

“With more than 10,000 rare diseases, the only way we can make progress is if we are all working together and you have a rising tide lifts all boats type of approach.”

On the Rare Pediatric Disease Priority Review Voucher Program, Karin confirms: “There are more than 500 drug development programs in the pipeline right now that would benefit from the program. The program is set to expire on September 30th which would be devastating for our community. But we are working in a very bipartisan way with Congress to get it reauthorized.”

• Dr. Lewis Fermaglich, Medical Officer, FDA Office of Orphan Products Development (OOPD)

Lewis highlighted the main challenge in the rare disease drug development: “The reason that rare diseases are so hard is that they are all different, so you could have a diagnosis but that doesn’t necessarily say that everyone’s going to act the same way, or look the same way, or have the underlying genetic mutations in the same way, so it can be difficult especially when you are dealing with a really small population.” He also noted the opportunity available for industry to seek orphan drug designations using 20-30 page designation requests and emphasizing the transparency that OOPD will provide to sponsors seeking designations that fall short on OOPD’s review. 

Lewis’s presentation also featured data from two publications he and his colleagues at OOPD authored which illustrate the progress of FDA’s orphan drug and rare pediatric disease priority review voucher programs:

• Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases | Orphanet Journal of Rare Diseases | Full Text (biomedcentral.com)
• Analysis of the first ten years of FDA’s rare pediatric disease priority review voucher program: designations, diseases, and drug development - PMC (nih.gov)

• Dr. Amel Karaa, Director, Mito Clinic & Lyosomal Diseases Programs, Massachusetts General Hospital, and Assistant Professor, Harvard Medical School
• Susan Abedi, Chief Strategy Officer, 81qd and the Medical Knowledge Group

Despite popular opinion, recruiting patients for rare disease trials isn't necessarily easier, as Susan Abedi, Chief Strategy Officer at 81qd highlights the difficulty of diagnosing patients before enrollment. Susan’s solution to this: “One of the things we do is to partner with a number of companies…leveraging artificial intelligence to identify who are the patients who are likely to have a particular condition and, importantly, who are the physicians that are treating those patients that are managing them often for another condition.”

Dr. Amel Karaa, assistant professor at Harvard Medical School and director of the mitochondrial and lysosomal diseases programs at the Massachusetts General Hospital in Boston, noted the insurance component to this challenge: “A lot of the insurances still in 2024 refuse to pay for genetic testing” even where patients are highly suspected to have a genetic condition, because insurers “still think it’s experimental and not useful, so we have a lot to do from that perspective as well.”

• Michelle Werner, CEO, Alltrna
• Moderator: Danielle Lauzon, Partner, Goodwin

The CEO of Alterna, Flagship Pioneering company focused on tRNA (Transfer RNA) to address a host of genetic diseases and a mother of a child diagnosed with Duchenne muscular dystrophy at age 10. The knowledge of this resulted in a period of reflection: “I spent the last 20 years hopefully making some dent in the oncology space where we’ve seen immunotherapies and targeted therapies make a big difference for those patients there, and I played a small role in some of that happening. I really wanted to think about…the next 20 years and make a similar impact in the rare disease setting...not that oncology is solved by any means but there is a lot more need in the rare disease space as I found once we became a part of [the DMD] community.”

Michelle also believes that the industry leaders in this space should be fully supporting what an organization such as NORD is doing. “We need to be able to make sure that the incentives that have been put in place to create a momentum around rare disease continues as it makes no sense to make brand new policies and then disincentivize the things that have been incentivized before. That’s absolutely something I feel very strongly about and support everything NORD is doing.”