Ceciel T. Rooker, President, IFFGD

There is growing recognition in the research community of the role of the patient as partner – not only in the outcomes of medical research, but in its practice, as well. As a meeting place for all stakeholders – investigators, drug developers and manufacturers, governmental agencies, and patients and their families – patient advocacy organizations like the International Foundation for Gastrointestinal Disorders (IFFGD) are uniquely positioned to facilitate patient involvement in research.

Additionally, bringing together and concentrating the perspectives of patients, IFFGD partners with investigators on research that can uncover real-world treatment solutions that meet patients’ real-life needs. By activating patient voices in research and elevating patient perspectives through research undertaken by IFFGD, we strengthen the patient/researcher partnership and pave the way for collaborations that lead to a greater understanding of how patients experience their condition and treatments that address their needs and, ultimately, improve outcomes.

As the role of the patient as an active member of their health care team and an equal partner in their own personal health care decisions is increasingly realized, the potential for patients to contribute to the design and practice of research that furthers the development of real-world solutions is also gaining momentum. This is evident in the development of health-related quality of life (HRQOL) instruments, increasing use of patient-reported outcome (PRO) measures in clinical trials, and expanding opportunities to participate in clinical research, drug approval, and health policy decisions through government-supported initiatives such as the INVOLVE program in the U.K.; the three year Patient Partner initiative funded by the European Commission; and the U.S. Food and Drug Administration’s five year Patient-Focused Drug Development Initiative (PFDDI).

Despite the logistical (and sometimes existential) challenges that have emerged in the process, greater involvement of the patient in research has encouraged investigators, regulators, and drug developers to look at patients, and thus, clinical trials, differently. For example, inclusion of patient insights into their own health experiences and care preferences challenged the traditional concept of the patient as “subject” – as a passive entity on whom treatments are performed. Patients exert considerable control over their own personal care and, subsequently, over treatment outcomes. From drug adherence to health care selection, patients determine for themselves how they will be treated. This observation has led to greater emphasis on shared decision making and improved patient-doctor communication in clinical settings, and has encouraged drug developers to address treatment burden and treatment fatigue to improve adherence by the patient.

Insights gathered from patients about their lived experiences and goals for treatment can help researchers identify and address unmet needs, the balance of treatment risks and benefits, treatment burden and fatigue, and the symptoms most needed to treat to improve quality of life. By partnering with researchers and drug developers, patients help shape clinical development to meet their real-world needs based on real-life experiences, shifting the research and drug development process from one directed by sponsors or investigators to one informed by patients.

I, the Patient

For functional gastrointestinal disorders (FGIDs), the involvement of the patient experience and perspective in research is especially critical.

FGIDs describe a group of chronic and often disabling conditions characterized by the lack of objective measures of disease. The absence of diagnosing tests or biomarkers complicates and often prolongs diagnosis and appropriate treatment. As a result, those affected often suffer for years or even decades before obtaining an accurate diagnosis and the legitimization that comes with it. During this ‘diagnostic journey’ patients commonly endure one or more misdiagnoses and numerous hospitalizations and investigations in their quest for answers. This experience often leaves patients and their families to piece together the limited information available to them on their own, with many patients resorting to self-treatment.

This was my own experience with a functional gastrointestinal disorder. As a young adult, I was diagnosed with irritable bowel syndrome (IBS), a highly prevalent but then understudied and misunderstood FGID. I underwent extensive testing and workups for many years in a costly and, ultimately, fruitless effort to discover what was causing my symptoms and how to treat them. Eventually, I ended up as many patients do: self-treating as best as I could and trying to teach myself how to “just live” with my illness. Since becoming president of IFFGD, I have heard my story echoed back to me by thousands of others.

Founded in 1991 by a single person struggling with the challenges posed by a FGID, IFFGD works to support and assist patients around the world affected by FGIDs and other chronic digestive conditions. We do this by raising global awareness of the burden these conditions pose and drawing attention to the unmet needs of those affected, by supporting and encouraging research that will improve outcomes, and by meeting the information needs of patients and their families. And, critically, recognizing the value patients bring to the research process, we work to empower patients to take an active role in shaping the future of the care and treatment of these conditions.

Putting Partnerships in Practice: The Role of Patient Advocacy Organizations

While symptom severity often guides clinical decision making in the diagnosis and treatment of disease, it is an understudied measure and is often replaced by the easier-to-assess disease severity, which looks at the presence and extensiveness of a disease in the body. But, in the case of the FGID patient, whose illness burden is not associated with any observable disease, this metric cannot effectively describe their severity.

So, how do researchers measure severity?

For those with IBS, severity doesn’t mean how much disease is present, but how much their daily life has been impacted. IBS is a highly prevalent digestive disorder characterized by recurring or chronic bouts of abdominal pain in association with a change in bowel habit (such as diarrhea or constipation). Symptoms of IBS can flare-up unexpectedly and can change over time or even from day to day. Other symptoms may also occur, such as bloating, gas, or urgency. While no objective markers of disease exist, the symptoms, coupled with the uncertainty and fluctuation of symptoms, can significantly impair the quality of life of those affected. Complicating this, bowel symptoms present unique difficulties for those affected and can mean a disruption to self-image, personal relationships, levels of intimacy, and ability to navigate work and school environments.

To capture the IBS lived experience and translate it into an instrument that could be used to quantify severity in clinical studies, IFFGD partnered on a research study with the Rome Foundation (https://theromefoundation.org/), the international non-profit organization responsible for developing the Rome Criteria – a set of symptom-based criteria used by clinicians to diagnose FGIDs like IBS. By involving the patient perspective through a series of focus groups that examined the symptoms experienced in IBS and factors contributing to self-perceived severity, we learned the following:

Consistent with previous observations, IBS symptom severity was found to be multidimensional and is informed by factors such as IBS symptoms, HRQOL, health care utilization, disability due to symptoms, extra-intestinal symptoms, resistance to treatment (refractoriness), and the patient’s own thoughts about his or her severity.

IBS was not only described in terms of symptoms (predominantly abdominal pain) but also as it affects daily functions, including uncertainty and unpredictability of symptoms; thoughts and feelings, such as fearfulness, shame, and embarrassment; and behaviors, including avoidance of activities perceived to worsen symptoms and adaptation behaviors.

Perceptions of social stigma and a lack of understanding from family, friends, and physicians of the effects of IBS on the patient and the legitimacy of his or her feelings or health-related behaviors also contributed to severity.

This study – a collaboration between a patient-driven organization and one that is made up of researchers and clinicians – illustrates how strong patient-researcher partnerships can support research that leads to a better understanding of the patient – his or her illness experience and treatment needs. By elevating the role of the patient perspective in research, patient advocacy organizations like IFFGD can help investigators and drug developers identify knowledge gaps and develop clinical solutions that are supported by a deeper understanding of the real-world needs of patients. Partnering together, we can engage in research that asks the right questions for the patient – questions that will ultimately inform the development of treatments that improve outcomes.

For a chronic and often unpredictable illness like IBS, understanding how the everyday lives of those affected have been impacted is central to understanding their needs and developing treatments that address those needs. But, this can only be accomplished through the involvement of the patients themselves. Focusing on questions that highlighted the daily challenges patients with IBS face and how these challenges contribute to their burden of illness, research undertaken by IFFGD and the Rome Foundation described how severity is experienced by patients with IBS and provided the foundation for the development of health status and severity instruments for clinical research. Thus, by bringing a patient-focused perspective to the research process, patient advocacy organizations help researchers and drug developers peel back the layers of the patient experience to uncover unmet needs and identify research priorities.

As a patient myself, hearing from other patients about their illness journey and treatment needs has helped me to better understand my own needs and has strengthened my commitment to growing collaborative research partnerships that encourage patient-focused solutions. Partnering with patients, investigators, and drug developers, we can engage in research that addresses the real-life needs of patients and leads to better outcomes.