Patient Support Programs and Rare Disease

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Tune into the second segment of the Avalere Health Essential Voice podcast series focused on disease education. In this segment, experts from our Market Access practice discuss rare disease patient support programs and the need for stakeholder partnerships to address many of the barriers patients and their caregivers face.
“When we think about what COVID has taught us all around the healthcare delivery system, it's about creating programs that are taking into consideration pre-COVID and post-COVID dynamics on how you support patients in tracking laws around coverage. The holistic approach has to be taken here, especially when considering rare diseases.” Saran Traore


Brigit Kyei-Baffour , Principal, Market Access & Reimbursement

Brigit Kyei-Baffour advises clients on issues related to market access, policy, and reimbursement strategies for digital health, diagnostic, medical device, and pharmaceutical companies.

Lilian Buch , Principal, Market Access & Reimbursement

Lilian Buch guides the development of innovative market access and patient support strategies to align with the client's priorities and goals.

David Kowalsky , Associate Principal

David Kowalsky partners with pharmaceutical companies to develop market access and patient support strategies.

Saran Traore , Associate Principal, Market Access & Reimbursement

Saran Traore partners with pharmaceutical companies to develop market access and patient support strategies.

This interview was originally published as a podcast. The audio is no longer available, but you can read the transcript below. For updates on our newly released content, visit our Insight Subscription page.

If you would like to watch the video version, please visit our video page.


Brigit: Hi, and welcome to another episode of Avalere Health Essential Voice and the second episode of our disease education series. In this series, we’ll be covering topics on a wide range of therapeutic focus areas.

My name is Brigit Kyei-Baffour and I’m a Consultant II in our Market Access practice at Avalere Health. I’m joined today by my colleagues Saran Traore, Lilian Buch, and David Kowalsky, who are Associate Principals in our Market Access practice.

In today’s episode, we will dive into rare diseases and support programs designed for patients, caregivers, and providers, particularly in light of COVID-19 and the continued impact of the pandemic on the patient population.

To help get us started, I’d like to provide some statistics on rare disease in the US as well as updates on treatment development. Rare diseases, or orphan diseases, as defined by the Orphan Drug Act of 1983 are conditions affecting less than 200,000 people in the US. Experts estimate up to 7,000 rare diseases exist, and that about 25 to 30 million Americans live with these conditions, which include muscular dystrophy, acute myeloid leukemia, sickle cell, spinal muscular atrophy, and other rare infections, cancers, and autoimmune diseases, to name a few.

Treatment advancements include cell and gene therapies, which have a continuously growing pipeline, but even with the growing number of units available there still exists the need for stakeholder partnerships to develop robust treatments and support programs that can address some of the barriers to access many of these patients and their caregivers face.

Today, our experts on the line will help us dive deeper into some of these key points. Saran, when developing patient support programs within the rare disease space, how important is advocacy and community engagement?

Saran: Thank you, Brigit. I’m very happy to be here today. With recent challenges in healthcare delivery, there is an urgent need for a collaborative approach in supporting patients with rare disease. Advocacy groups are crucial to this partnership. Authentic and strategic engagements to establish trust across stakeholders to learn more about the disease community’s needs will inform development of impactful programs that patients, caregivers, and providers will use, and in turn provide invaluable insights to the manufacturer organizations.

I’d say advocacy groups can be a bridge in truly accomplishing a patient-centric approach, in developing patient education and accessible programs.

Brigit: Thank you. That leads me to a follow-up question. How early should these engagements begin in the product commercialization lifecycle?

David: I’m going to say early. Depending on the disease state, that can occur as early as identifying patients for clinical trials and where they reside. Then starting in phase 2, you’re really going to want to start building relationships with advocacy groups and key opinion leaders. This will help in understanding the pain points for patients, caregivers, and the care team in obtaining the treatment and any support services that are out there.

As part of any phase 3 trial, 2 patient support initiatives need to be under development: a bridge program to allow participants to remain on therapy until FDA approval, and the PSP commercialization strategy. Basically, what are you going to build, when are you going to build it, and when is it going to be available at commercialization? The overall program needs to balance being robust enough to solve treatment pain points but individualized enough to provide support where and when the patient needs it.

Brigit: As therapies evolve and become available for diseases within this class, what are some complex support barriers faced by patients, caregivers, and their care teams beyond accessing the drug?

David: Two barriers come immediately to mind, especially early in the process: diagnosis and testing, and education.

Diagnosis and testing can be a slow process and it’s really done to rule out more common diseases. Depending on the disease state, patients can undergo several tests at different sites of care by different specialists. So, it can become really time consuming and stressful for patients and caregivers as they work with their doctors to determine just what’s wrong with them. It’s a really challenging thing for them.

One of the things that has actually come out of COVID, though, is the growth and acceptance of telemedicine, and that really has had a positive effect on seeking a diagnosis. You can now research specialists online and connect with them via telemedicine, which opens patients and caregivers to new experts who they wouldn’t be able to reach prior to COVID.

Education is the second barrier. Rare diseases have small patient populations, so that usually means there are less resources for patients and caregivers to access. Manufacturers really have the chance to be a trusted resource for disease education and not just for treatment options. They can work with advocacy groups on developing resources on how to live with and manage the disease. That can be just as important for them as providing treatment. This can be accomplished in a variety of ways, but really the main thing is keeping the message consistent across all their platforms, not just in marketing, but for patient support programs and everything that they’re touching and doing.

Lilian: Those are really good points. I will add that, as the treatment then continues and treatment decisions are being made, additional barriers may present themselves in care coordination as well as site-of-care challenges, adherence, persistence, and overall case management. That’s where a real comprehensive patient support program can enter.

A site-of-care challenge, for example, is a unique opportunity for the manufacturer to help the patient navigate the issue. Whether that issue is because of the patient’s geographical location or a payer mandate, providers, patients, and caregivers really need that care coordination. Manufacturers have the unique opportunity to communicate with patients either directly or through mobile apps. Those are the opportunities that can create that patient experience and patient engagement that is so important in patient support programs.

One final thing is that caregivers are such an important part of a rare disease patient’s journey, so as you are talking about patient support programs, family support, childcare, and transportation all become part of that program that then allows that patient engagement and patient experience to go beyond just accessing the drug.

Brigit: Thank you, David and Lilian. So, my final question is, what does end-to-end support mean in rare disease, and how can life sciences organizations approach this standard for patient support programs?

Lilian: Excellent question, Brigit. As we talk about end-to-end capabilities with patient support programs, what we’re really talking about is a holistic approach and a dynamic one in that you are constantly responding to the challenges of the patients, the providers, and the caregivers. All 3 stakeholders face different challenges as they go forward with a treatment plan.

If there’s one thing that we have learned throughout 2020 it is how quickly things can change in terms of care delivery. So, you look at what telehealth did, as Dave mentioned. You look at the role of the specialty pharmacy and how that became an integral part of care delivery. What we want to do is ensure that our patient support programs are also changing, and manufacturers, again, must adapt to that and offer situations where the patient engagement is top of mind.

One thing that has been said is that COVID has really pushed our capabilities in every aspect of our world into overdrive, and that has certainly been the case with healthcare delivery. So, what does that mean? As payers push forward into outcome-based contracts, value-based contracts, things like patient-reported outcomes become very important. Again, you can translate that into what a patient support program might look like.

Saran: Well said, Lilian, and then when we think of what end-to-end patient support really means, it’s that continuous program, evaluation, evolution, and benchmarking. When we think about what COVID has taught us all around the healthcare delivery system, it’s creating programs that are taking into consideration pre-COVID and post-COVID dynamics on how you support patients and tracking laws around coverage. The holistic approach has to be taken here, especially when considering rare diseases.

Brigit: Thank you, Lillian, Saran, and David, for joining us today and for your valuable insights. Based on everything you shared, it sounds like manufacturers should adopt a patient-centric approach in designing and optimizing end-to-end patient support programs in rare disease. Avalere has partnered with clients in this space by leveraging this data as well as its subject matter experts to lend strategic guidance and support to our clients. Some examples of this include conducting payer analyses and assessments to identify impacted patients in relevant disease states, assessing the range of support offerings provided by manufacturers as well as third-party organizations, analyzing the impact of COVID-19 on shifts in insurance coverage, and the use of telehealth. Another example is developing advocacy engagement strategies and patient support programs both pre- and post-launch.

With that, I’d like to thank you all for tuning into Avalere Health Essential Voice. Please stay tuned for more episodes in our disease education series. If you would like to learn more, please visit us at Thank you.

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