Delivering Rare Disease Therapies to Patients in Need

When Genzyme won approval for an enzyme replacement therapy for Gaucher disease in 1991, the company launched a humanitarian aid program for rare diseases. Now as part of Sanofi, the pharmaceutical company has continued and expanded the program, which now includes five different lysosomal storage disorders, as well as rare blood disorders. We spoke to Bill Sibold, executive vice president of Sanofi Genzyme and president of Sanofi North America, about the company’s Humanitarian Aid Program, how it works; and how it overcomes the regulatory, infrastructure, and medical challenges of delivering these treatments to patients around the globe.

Daniel Levine: Bill. Thanks for joining us.

Bill Sibold: Great to be here. Thank you, Daniel.

Daniel Levine: We’re going to talk about rare disease across the globe, the challenges people in many countries have getting access to existing therapies, and Sanofi Genzyme’s humanitarian aid program. Perhaps, we can start with the big picture. When we think of rare diseases where there are existing therapies, how well addressed are they globally? What are the challenges patients face with getting access to therapies?

Bill Sibold: I think access to therapy is not unique to rare diseases. I think it’s one of the issues that we have on a global scale and it’s something that we’re trying to address. Specifically, the way we’re handling it with rare diseases is through our humanitarian program where we have more than a thousand patients that are treated annually with free therapy. This is something where when you hear the number one thousand, you can say, is that a big number or a small number when you consider the size of these populations? It actually turns out that we have the ability to get to many patients of that population. So, this is a high priority for us to be thinking about not only as an industry, but as a company. This is something that is near and dear to our hearts and we’ve been doing it for a long time.

Daniel Levine: The Sanofi Genzyme humanitarian aid program goes back to 1991 and was started by Henri Termeer at Genzyme, when the company’s enzyme replacement therapy for Gaucher disease was made available. Within the area of rare diseases, what is the humanitarian aid program and what does it do?

Bill Sibold: Henri Termeer was a real visionary and this program got started at the time we launched our first therapy. When you think about these rare disease products, we were the first company to come up with a lysosomal storage disorder product. It was something that the system had never seen before. These are very few patients and very high value products, and in order to get people on therapy quickly there needed to be a way to provide them with the therapy before insurance and everything kicked in. Now, what ended up happening was that outside of the U.S., in an extremely developed and sophisticated system, people from around the world started reaching out to us and asked for access to these medicines. We’ve always put patients at the center of this company. We put the patient first whether a patient is somebody who can or can’t afford, or lives in a system who does or doesn’t pay. This was really the start of the program, where we would work with the patient, with their government, with their physicians, and with the community surrounding them to try to offer them access to a therapy that could potentially save or transform their lives.

Daniel Levine: There are two aspects to the rare disease program. The first is focused on lysosomal storage disorders. Can you explain what a lysosomal storage disorder is?

Bill Sibold: Well, in some people, and usually there’s a genetic link to this, where your body doesn’t produce an enzyme that would break down something in your body, like a protein or a carbohydrate. What ends up happening, If you can’t break down the protein or carbohydrate, it tends to accumulate in certain parts of the body, usually key organs of yours, and starts to lead to swelling, dysfunction, and a poor outcome for those patients. What this [the replacement therapy] does is it puts that natural enzyme back into the body so that those proteins or carbohydrates can be broken down and you don’t accumulate the problem.

Daniel Levine: The program covers five enzyme replacement therapies that Sanofi Genzyme developed and markets. How does the program work with regard to these therapies?

Bill Sibold: Well, it evolves, is really the starting point. We’ll hear in one country from one patient perhaps—and this is a 30 year perspective here—and look to help that patient. Usually it turns out where there is one patient, there are more. Over time, what we do is we put the effort in to work with the governments, with the regulatory bodies there, with the patient communities, et cetera, so that not only do we help that patient, but we help that physician with diagnosis going forward. A recent example is we just had our first patient in Nicaragua. Soon after that followed a second patient, because the physician now had learned what to look for, for one of the rare diseases in this case, Gaucher disease. So, finding that next patient, they had an awareness of it and made the diagnosis.

Daniel Levine: I imagine it’s not just a matter of a physician reaching out to you, but you actually have to navigate some sort of regulatory hurdles that may exist from country to country to allow you to make the drug available in any given nation. What’s the process you go through?

Bill Sibold: It is actually very complex. You have to deal with various stakeholders within any given country, the regulators, the physicians, and you have supply chains that you have to work with. One of the things that has really helped the program is—since the acquisition of Genzyme by Sanofi—there’s an opportunity to leverage the huge global footprint that Sanofi brought so we can have better supply chains and so forth throughout some of these countries, and also harness already existing contacts and relationships with the regulators and other key stakeholders that we have to work with.

Daniel Levine: Walk me through how that’s actually done, because I don’t think many people consider supply chain issues, particularly when you have to deliver a drug in a nation that may not have advanced infrastructure and may not be a place you’re doing business under normal circumstances. How do you go about delivering a drug into different parts of the world?

Bill Sibold: I can tell you that at the core of it is a group of incredibly committed people and not only people within the company, but people that are on the ground in any given country. Now, we have delivered products into war-torn countries that have undergone coups, always with the idea of going the extra mile to make sure that a patient gets the therapy they need and doesn’t have their supply chain interrupted. We make use of the channels that exist through the products that we currently deliver, but we also are very creative and look for any solution. If a therapy has to be delivered to a small village somewhere, we take the extra step and make use of the local resources that are available.

Daniel Levine: It’s not just a matter of access but requires proper diagnosis of a patient, a physician’s understanding that a therapy exists, and having the necessary infrastructure to administer the medicine. Are there things you’ve had to do to address these other aspects?

Bill Sibold: Yeah. There’s significant education. What we do for any patient anywhere in the world, we make sure that there is that resource around them. Patient safety has to be first and foremost. So, as you said, we want to make sure that there’s the appropriate condition and expert training that takes place so that these products can be delivered in a way that is as good as it would be in the most advanced country in the world.

Daniel Levine: To what extent do patient organizations exist in developing countries, and what role, if any, do they play in your efforts through this program?

Bill Sibold: Well, we do rely heavily on partners with local expertise who have the relationships that help support patients. The level of sophistication varies in some of the patient groups. Often with rare diseases, because there are so few patients, there aren’t a lot of people to be part of that group. Oftentimes what we’ll see, is the family and the treating physician of a patient has created a small patient association because of the specific need they have as an individual or as a family. As time goes on and more and more people are diagnosed, these organizations tend to become a little bigger and more robust. We work with everything from the very earliest stage patient organization to ones that have been developed over many, many years.

Daniel Levine: Sanofi has made a number of acquisitions in the area of rare blood disorders that have primarily been in the clotting disorder hemophilia. How big a problem does hemophilia represent and how well addressed is it globally?

Bill Sibold: Well, hemophilia is a large problem. We call it a rare disease, but there’s estimated to be over 400,000 people affected by hemophilia worldwide, and about 75 percent have limited or no access to diagnosis or treatment. So, that is a big problem. The challenge is that if people aren’t treated, they rarely survive to adulthood and those that do often face a life of real severe disability, isolation, and chronic pain. It is a big issue that remains in the world.

Daniel Levine: There have long been recombinant factor replacement therapies available in the United States. Is this primarily how it’s been treated in the developing world?

Bill Sibold: Yes. The World Federation Humanitarian Aid program does provide treatment and products to countries where there’s limited access. They have both the plasma derived and the recombinant clotting factors that are used for both the Factor VIII and Factor IX, so hemophilia A and B. They rely upon donations from companies to give to these countries to help identify patients with these problems and help them. For the most part it has been for emergency use. More and more, as there’s a better program that has been developed, it’s now trying to get to helping patients to have more of a prophylactic use. So, not in an emergency, but actually treating to avoid an emergency.

Daniel Levine: You’re working with Sobi to provide therapies to the Federation of Hemophilia. How extensive is that program?

Bill Sibold: It is a very good program. It’s quite extensive. Sanofi is a founding visionary contributor to this program. Just to give you an idea, in 2020, with Sobi, we extended our support for this program to donate an additional 500 million international units of factor over a period of five years. That’s fulfilling a 2014 pledge that donated an unprecedented 1 billion international units for humanitarian use over a 10 year period. So, it’s very significant and we are, by far, the companies with us and Sobi, the largest contributor to this program.

Daniel Levine: How does this program work? How does a patient ultimately get access to therapy?

Bill Sibold: Well, the WFH plays a very significant role in this. They are the ones that actually administer the program and we work directly with them. This is a little bit different from our rare disease program, where we administer essentially the whole program. This is something that they had established years ago. With our donation, going all the way back to 2014, it has really helped them to expand the size of this program and be able to work appropriately, just like we do, with patient associations and governments around the world to make this program a reality.

Daniel Levine: In the case of both enzyme replacement therapies and factor replacement therapies, these are expensive treatments that require ongoing administration. It appears we’re heading toward a new generation of one-and-done therapies designed to correct and cure genetic problems underlying these diseases. These are likely to be economical over the long-term but costly upfront. How do you see these therapies addressing the particular complexities in developing nations?

Bill Sibold: I think if you were to turn the clock back 30 years ago, when we first started in this rare disease area, one could ask the same question. I think what it takes is it becoming a priority to companies to find a way to fulfill some of these unmet needs. I have no doubt that as those therapies are made available, there’s going to be solutions that are found to provide a service like this.

Daniel Levine: Sanofi’s humanitarian efforts extend well beyond rare diseases to include infectious and chronic diseases. Given the scope of health problems and the finite investments Sanofi can make, do you ever find it challenging to make the case for what you do in rare diseases, given that these are expensive therapies that can only benefit a small population relative to the good you can do with a similar investment targeting infectious and chronic diseases that cost far less to treat and could benefit a far greater number of people?

Bill Sibold: The short answer is no, it’s never a challenge. This is one of the key programs that is part of our CSR strategy as well. It’s something that regardless of size of population it comes down to individual patients and the need that exists. So, it’s never an argument for a trade-off to say, we’re going to do another disease versus these that we’re focusing on. I just want to tell you, it really comes down to the culture of an organization. If patients are something that you care about and you put that first, a lot of the decisions that follow from there are pretty easy. Let me just give you a short example, about 12 years ago when legacy Genzyme had manufacturing challenges where it led to an interruption in supply. It was the darkest days of the company’s history, where we couldn’t fulfill the demand for patients. During that time, the percentage of units that were committed to this program didn’t change versus when we had been at unconstrained availability of product. We have patients that stopped therapy occasionally, they either stopped for medical reasons, patients pass away, et cetera, and rather than reallocating that supply back to say a paying market, we kept that allocation to patients that were in this humanitarian program. That is when a culture meets a crisis and a decision is made that reinforces your culture. It’s one of the stories about this program that I’m most proud of and tell it often. There was a moment when we had a choice to say, are we going to stick to the values of this program and what we believe as a company or not? Every year we have done so and we’ll continue to do so. The answer is, this may be a rare disease and there may be other diseases, but there’s a patient at the end of this and we want to make sure that we fulfill our commitment to them.

Daniel Levine: Bill Sibold, executive vice president of Sanofi Genzyme and president of Sanofi North America’s humanitarian aid program. Bill, thanks so much for your time today.

Bill Sibold: Thank you.