The Race to Develop Rare Disease Treatments

An Insider’s View of the Orphan Drug Revolution and the Race to Develop Rare Disease Treatments – Podcast.

On the latest episode of our podcast, “Shared Experiences in Oncology & Rare Diseases,” we interviewed Jim Geraghty, who is a widely recognized leader in the rare disease field. Jim has been a director of eight NASDAQ-listed biotech companies and the chair of five. Having worked on orphan drugs for more than 40 years — as a strategy consultant, a CEO, and a leader pioneering international operations at Genzyme, and later a venture entrepreneur — he has a fascinating perspective on the industry.

Jim is also the author of a new book called “Inside the Orphan Drug Revolution.” In this book, he expertly weaves a narrative that brings the industry to life by sharing personal stories and inspiring quests of the patients, scientists, and BioPharma executives who played key roles in the orphan drug revolution. Based on decades of experience in rare disease drug development, Jim also shares his insights on some of the policy lessons learned, as well as the challenges that lie ahead.

Check out our podcast featuring Jim on YouTube or Spotify.

Here are some highlights from our interview with Jim Geraghty.

Q. Most of our listeners know that the Orphan Drug Act is a law that was passed by the US Congress in 1983 to incentivize companies to develop treatments for rare diseases, but Jim, can you tell us a little bit about the history behind the Orphan Drug Act?

A. I often say that the orphan drug revolution is the story of miracles, and the passage of the Orphan Drug Act was the first miracle in some ways because when, when Congressman Henry Waxman first started having these hearings about the need for legislation to support the development of treatments for rare diseases — nobody came.

By a stroke of luck, the hearings came to the attention of a well-known actor who many of your older listeners will know named Jack Klugman, who had a television show called “Quincy M.E.” The show’s producer had a brother with a rare disease, and he heard about this movement. They decided to film two episodes of the show focusing on the need for drugs for rare diseases. Suddenly, Congress was flooded with letters from families across the United States living with rare diseases. And, it was that outpouring of support from families across the country that actually provided the momentum for the Orphan Drug Act to be passed.

The movement was first started and initially led by led initially by a woman named Abbey Meyers, who was often called “the mother of the orphan drug revolution,” and she is the founder of the National Organization of Rare Disorders (NORD). My book opens with Abbey’s incredible story.

Q. Your book shares so many great examples of successes — from Hemophilia and Cystic Fibrosis to Duchenne Muscular Dystrophy. How would you describe the overall impact of the Orphan Drug Act in terms of bringing new treatments to market?

A. You mentioned some of the great successes, and those are some of the more prevalent, more common genetic diseases that many of your listeners will know. It has also, of course, led to therapies by now for dozens and dozens, even, a few hundred rare genetic diseases, most of which, your listeners have never heard of. Most people have never heard of these rare diseases unless they or a loved one is afflicted by it. Unless you are in this field, you wouldn’t know about rare diseases like Gaucher disease, Fabry disease, Pompe disease, and Niemann-Pick disease — and that there are now therapies that allow many children diagnosed with these diseases to live normal, healthy lives.

Q. In terms of the policy mechanism and the financial incentives, would you characterize the Orphan Drug Act as a success?

A. I would for sure. You know obviously, companies have a fiduciary duty to their shareholders to provide a return on investment. And at the same time, with these diseases being so rare, it takes so long to develop these drugs that by the time they come to market they have no, or almost no patent life left. So, companies looked at that and they said, “Well, how can we ever get a return on our investment if there’s no period of market exclusivity?”

The Orphan Drug Act provides several benefits, but the most important economic benefit is a period of market exclusivity that allows companies to recoup their investment and earn a return. And that has been very successful. As you know, many biotechnology companies have turned their attention to rare genetic diseases, and they’re among the most important programs being developed in the industry today.

Q. You shared so many inspiring examples of how rare disease patients and families worked tirelessly to try to find and access treatments over the years. What do you see as the role of the patient in drug development today?

A. Patients drove the orphan drug revolution and they drive the development of these therapies; it has to be patient-led. Today, rare disease families, as you know from being in this world, of course, are very focused and very aware. There’s so much more information available now. Today, patients and families find researchers, fund research, they enroll in early clinical trials and patient registries, and find ways to provide information about the course of the disease and the disease burden. Then, they work with biotech companies to think about how to design a clinical trial. Patients and families work with the FDA on what is an appropriate basis for regulatory approval. Finally, they work with Congress and legislators to ensure that adequate reimbursement is made available so that patients can access the drug and investors will continue to invest in this field. From start to finish, I would say the orphan drug revolution has been and continues to be sustained by patient and family activism.

Q. You talked about some of the major challenges that companies face in the development of orphan drugs. Toward the end of the book, you explore some of the lessons learned from the Orphan Drug Revolution in terms of policy. Can you tell us a little bit about that?

A. There are several lessons learned, some for entrepreneurs and some on the policy side. On the policy side, a great lesson is that families can’t become complacent. There’s also a very important policy issue around newborn screening. Given how rapidly some of these rare genetic diseases can progress, we must identify them as early as possible.

Newborn screening does identify many diseases in every state in the United States, but there are many more that could be added. There’s kind of a conservative mentality among many newborn screening organizations that says a disease shouldn’t be added to a newborn screening panel until there’s a therapy approved by the FDA. They say that families don’t want to know if their child has a genetic disease — if there’s no treatment available. Well, today families do want to know because they want to enroll their children in clinical trials and get them in whatever care they can. So, to speed up access and expansion of those newborn screening panels is something that parents in every state can play an important role in trying to support.

Q. In the book, you mentioned a few examples of when rare disease patients accessed a drug in development via expanded access (also known as compassionate use). Why was this an important pathway in some cases?

A. The development, approval, and launch of a new therapy is very complex. Oftentimes drugs are moving through development and they’re in clinical trials and there are some results and indications that they look promising, but they haven’t yet received FDA approval and meanwhile, patients are asking to access them. And, then the question is, what happens in that situation?

Sometimes there are cases when the company can make a therapy available on a compassionate use or expanded access basis. Those programs have to be very carefully managed and guided by medical experts to try to ensure that the decision criteria are appropriate. But, as you know, the reason for the urgency is that many of these diseases are relentlessly and rapidly progressing and if children are not treated at a very early age, they could suffer irreversible damage. So, companies have to be very mindful of this and the regulatory authorities have to be very mindful of trying to be able to make those therapies available to children at the earliest possible time to limit that progressive damage.

Q. I really enjoyed reading your book. I got my copy on Amazon, but where else can people find it?

A. There’s a website, https://orphandrugrevolution.com/ where people can find a lot of information or contact me if anybody wants to talk. I’m always interested in talking with people who are part of this community about the shared mission that we all work on together.

myTomorrows and the rare disease community

There are more than 7,000 rare diseases, and it is estimated that more than 90% of them still don’t have an approved treatment option. Clinical trials are an essential piece of the puzzle of developing new treatments for patients, but there are numerous challenges in recruiting, screening, and enrolling patients in clinical trials — especially for rare diseases. myTomorrows understands this and offers a personalized approach to clinical trials and Expanded Access Programs.

Our team has extensive experience in the rare disease field, having helped more than 2,517 rare disease patients and 789 physicians in 51 countries while searching for rare disease clinical trials or expanded access programs over the past three years. In addition, myTomorrows has also worked with 11 BioPharma clients in the rare disease space.

Learn more about how myTomorrows helps BioPharma clients with clinical trials, Expanded Access and Real-World Data.