Role of Patients in the Development of Rare Disease Solutions

An interview with Giulia Pierini

How to Engage Patients in Your Rare Disease Product Development

Over 300 million people worldwide are impacted by a rare disease, whether they are patients, caregivers, or families. These patients are more likely than others to face misdiagnosis, treatment inequality, and isolation. Primary care physicians without specialized training, in many instances, may not be able to recognize rare diseases immediately: diagnosis takes an average of ten years for most people and sometimes as many as 20 years. And of the 7,000 known rare diseases in the world, 90% have no FDA-approved treatment. The unmet needs and the opportunities to create new drugs are enormous.

We spoke to Giulia Pierini, Associate Director, Patient Engagement at Alira Health, about why patient engagement is crucial in the development of products to treat rare diseases and how you can incorporate patient engagement practices into a patient-centric business strategy.

Published on:
February 23, 2023
Working in partnership with patients and PAGs can ensure impactful clinical benefit of treatments as that addresses important unmet patient needs prioritized from the patient's perspective.
Giulia Pierini Associate Director, Patient Engagement, Alira Health
Why is being patient-centric so crucial in developing rare disease treatments?

Being patient-centric in all treatment development is an absolute must, no matter how rare the disease is. But there are specific hurdles in the way of product development for rare diseases that include a small, dispersed, and heterogeneous patient population, a limited understanding of these diseases, and a lack of meaningful endpoints from the patient perspective in the clinical stage. These hurdles can all be reduced or even eliminated by placing patients at the center of product development.

Over time, patients with rare diseases become experts in their conditions. No one understands their journey better than they do, which makes them a treasure trove of vital information. Patient needs are extremely high and differ widely from one rare disease to another. Also, the emotional perspective of patients with rare diseases is key to developing a treatment that will fit not only their clinical needs but also address their quality of life and disease burden. It’s not enough to map the patient journey at a high level; companies must go deep and understand each step of the journey in detail (including timeline, stakeholders, unmet needs, and pain points) in order to properly appraise the impact of the disease on a patient’s life.

Rare disease patients have created strong patient associations – known as Patient Advocacy Groups (PAGs) – which give them a voice to advocate for research, treatments, and fundraising. And, during the past few years, the FDA and EMA have started developing guidelines for patient-centered product development in rare diseases. All this adds up to the fact that these patients must be involved during the development of treatments for rare diseases.

When and how should a company engage patients in the product development process?

Rare disease patients must be engaged at every stage of product development, i.e., starting from the early clinical stage (potentially pre-clinical) until post-launch.

Working in partnership with patients and PAGs can ensure impactful clinical benefit of treatments as that addresses important unmet patient needs prioritized from the patient’s perspective.

Patients, in many ways, can advise companies on the adequate endpoints of a trial and its feasibility, including whether the schedule and/or location is realistic for people with their conditions. Interactions with patients can not only inform the clinical trial design but also help to select the clinical endpoints and develop sensitive and specific outcome measures. The patient’s perception of the impact on their lives, such as serious levels of fatigue, may not be quantifiable, but Patient Reported Outcomes (PROs) may be used as endpoints in rare disease trials because these diseases can lead to a significant reduction in quality of life for patients and their families. Engaging with Patient associations can help with recruiting for the trial as well.

For companies entering this space, another important activity is to create registries of patients with specific rare disease conditions. Such registries can provide valuable patient journey knowledge into areas including the natural progression of the disease, clinical treatment monitoring, and outcomes. Aggregating information on this limited number of geographically dispersed patients gives healthcare companies the vital insight they need to develop treatments.

Moving forward in the product development phase, it is important to highlight that, in the regulatory phase, rare disease patients are involved in conversations with FDA and EMA, seeking out the agencies when potential approval of treatment is discussed. So, it’s important to be aware that patients will be consulted during the approval process and to understand their perception of how a potential treatment may solve their most important unmet needs.

Launch plans as well must be designed to satisfy the long-term needs of the patient and should include patient support programs. An effective patient support program will keep patients continuously engaged and support the collection of real-world evidence data. Rare disease patients have major support needs, with their condition significantly impacting them and their caregivers. As an example, many patients lose jobs or are forced to change jobs; or they may need to move because their current residence is inadequate. The repercussions of the disease mean they need support in many aspects of life in addition to their clinical health – sociological, economical, emotional, and psychological.

What are the risks when rare disease patients are not involved?

The first risk is not recruiting enough patients and having to drop the trial. In fact, if trial protocols are not designed with patient input, they may not be appropriate for their needs. For example, if patients have to attend their appointment at a center of reference for their disease that is far away from their home or if they are required to spend several days in hospitals, it can be very challenging for them to reach the location, leading to dropouts because of lack of trial feasibility. Changing trial protocols inevitably leads to resubmitting to FDA and EMA, increasing costs and time. Improving clinical plans and engaging with patients in the pre-launch phase increases the chances of success from a regulatory perspective and has proven to be a shorter time to launch. On top of that, without a detailed patient engagement plan in the post-launch phase, patients may stop treatment or not use the product correctly, potentially leading to a lack of efficacy of treatments.

How can a company have a truly patient-centric product development cycle?

My number one piece of advice is to start early, well in advance of the clinical trial, or as soon as possible. Also, patient engagement is neither a one-time effort nor a one-person job. It’s an ongoing partnership with patients and a cross-functional practice. Everyone at a healthcare company needs to be fully involved.

As a patient once told me, ”I wish I was asked before I had to drop out from the trial. Anyway, I am happy to provide my input now, hoping it can benefit other patients. It is a challenge that we can win only if we work all together with one goal in mind and join our efforts.”

At Alira Health, we’re committed to rare disease awareness and support. The goal of our Patient Engagement department is to bring the patient voice into healthcare development, and this includes our involvement with associations like EURORIS Rare Diseases Europe, which, among other efforts raises awareness and helps patients to get involved in finding solutions.

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