Guest Column | September 7, 2021

Incorporating Patient Voice In Rare Disease Trials: 3 Lessons Learned

By Mary Frances Harmon, PTC Therapeutics

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The emergence of a new generation of treatments in biotechnology has aroused much hope in the rare disease community. To ensure these new treatments can truly benefit patients and be accessible to them, it’s important that we ask for and include their perspectives in every step of our work.

As the rare disease market has expanded, being a patient-centered company has become a necessity as much as an aspiration. When we involve patients early on in our drug development programs, we get valuable insights and can understand their special situations, which helps us design the most effective solutions that meet patients’ needs. There is no better way to understand what it is like to live with a rare disease and the unique challenges that come with a diagnosis than to hear directly from our patients bravely facing those challenges every day. Below are my lessons learned.

1. It’s Crucial To Establish Connections Prior To The Trial

Working to develop new drugs and treatments for rare diseases presents the opportunity to work closely with patients and families and provides the chance to establish meaningful patient relationships to further inspire the work being done.

Beginning early in the development of a drug candidate, our team establishes relationships with the patient advocacy group(s) that support patients and families living with the disease. Through these groups, we are able to meet directly with patients, families, and caregivers to learn about the patient journey, the challenges of living with the condition, and the unmet needs from their perspective. We also learn about their preferences for dosing and route of administration and the limitations of current treatments. These are things that we would never know if we didn’t talk to the patients and families. In addition, these relationships help to build trust between the company and the community and are a positive influence in recruiting when we go into the clinic. 

2. The Patient’s Endpoint For The Trial May Be Different From Ours

Personalizing the treatment experience by incorporating the patient perspective allows for a more humanized, successful approach to medicine. While clinical trials largely aim to examine an investigational treatment’s risks and benefits, potential worries and concerns from the patient community are not always well matched to the problems the research community is trying to solve. This is especially true for the rare disease community, where much less is understood about the diseases. By including the patient perspective, companies can gain valuable insights into the challenges of the disease, as well as gaps between the care currently available and the unmet needs patients continue to experience.

Through discussions with patients and their families, we often learn that the endpoints under consideration are not important to the community and if the trial were to show an improvement in other aspects of the disease, the results would be more meaningful and offer more value over their current therapies. Again, this is something we would not have known if we did not seek to understand the patient’s perspective.

In one of our rare disease programs, we heard from the caregivers that one of the most meaningful results of a potential treatment would be the ability for the patient to better communicate their needs. While this may not be an endpoint that was initially under consideration, we now know how this detail would dramatically affect the life of not only the patient but their caregiver and their circle of support. As advocates for the rare disease community, it is crucial for us to be able to understand these perspectives and partner with our clinical research teams to look at all possible endpoints to be considered.

3. During The Trial, Take Patient Needs Into Account For Better Engagement

We have learned that it’s critical to involve patients in the design of clinical trials to create a deeper understanding of clinical trial access, practices, and post-trial follow-up considerations. Involving patients, advocacy groups, and caregivers provides an understanding of the rare conditions that numbers alone cannot provide. Identifying best practices through patient input can help to facilitate patient enrollment and ease the process and potential burden of patient participation in trials.

Many rare disease patients experience disability as a result of their conditions. For example, people living with Duchenne muscular dystrophy (DMD) often lose mobility function and use wheelchairs. People with AADC deficiency suffer from movement disorders such as dystonia (twitching) or hypokinesia (decreased body movements). In speaking with those living with these disorders and their caregivers, we are able to better understand the complications associated with the disease and incorporate those into the clinical trial design.

When we are designing a trial, we understand that the simplest thing a patient experiences can have a huge impact while participating in a study. In one of our preclinical programs, we learned from holding a caregiver advisory board that those living with the disease have a hard time sleeping and that travel can impact this even more. It is important that we understand that if a patient is traveling for a study, we need to potentially modify our arrangements to make time for them to travel, rest, and settle in before they come to the site. Collecting good data is extremely important, as is making the proper accommodations for them to come for their assessments. This extra step far outweighs the risk of collecting poor data which then could potentially put the study at risk.

It is important that we understand the study participants’ needs when they are on-site. Take everything into consideration, including the amount of noise, light, and overall energy of the site. In getting to know the patients, we can see the small details that will have a large impact on our study. We learned from one community that a lot of their patients do not like to be touched, so now we need to ensure in the design of the trial that tests like a simple blood draw are done by someone with extreme quickness and accuracy. Designing a clinical trial with the patient perspective in mind not only can add to the success of a trial but, more importantly, it will create a positive experience for the patient and their family.

Patients are the most important stakeholders in our work. Ensuring that each voice is represented and heard helps us provide meaningful outcomes for the broader patient community.

About the Author:

Mary Frances Harmon is the senior vice president of corporate and patient relations at PTC Therapeutics. She brings more than 30 years of experience in the pharmaceutical industry to her role overseeing strategic and operational leadership for policy, advocacy, and patient communications and engagement. Her work helps create a unified vision for patient and government relations and implementing programs with patient groups. Before PTC, Harmon was the head of global patient advocacy at NPS Pharmaceuticals. She received a B.S. in medical technology from Jacksonville University.