How Social Media Can Be Used to Understand What Matters to People with Rare Diseases

SPRING 2019, THE EVIDENCE FORUM, WHITE PAPER

Evie Merinopoulou, MSc Senior Research Associate Real-World Evidence Evidera

Andrew Cox, PhD Research Scientist Real-World Evidence Evidera

Rare Diseases, Drug Development, Decision-Making, and the Patient Perspective

Rare diseases pose several challenges to the drug-development process. Since patients who suffer from rare diseases are infrequent and geographically dispersed, important medical and clinical information is often highly limited and difficult to locate. Furthermore, for many rare diseases there is not a high level of awareness among the medical community in general, and that can lead to misdiagnoses, extended pathways to correct diagnoses, and a lack of appropriate medical codes with which to identify the patients correctly. All these factors conspire to make it more difficult to understand the natural history, epidemiology, and progression of diseases that affect small and often highly diverse patient populations.

Understanding the patterns of healthcare, burden, and unmet needs of rare disease patients is equally difficult and frequently an almost impossible task. The challenge of identifying rare disease patients also makes it more difficult to conduct studies aimed at discovering their perspectives and needs. In recent years there has been a profound shift to a more patient-centric, drug-development process to ensure the patient voice is incorporated across all stages. This is particularly true for rare diseases, where incorporating the patient voice into orphan drug development is a priority.

In January 2019, the US Food and Drug Administration (FDA) published a revised draft guidance on rare and orphan drug development. The guidance encourages researchers to involve patients, caregivers, and advocates, having them provide input on their experiences, perspectives, and priorities related to potential endpoints used during the drug-development process and regulatory review.¹ The guidance also encourages the use of social media as a means to represent the perspective of the patients. Additionally, an increasing number of manufacturers are involving patient representatives in early trial design to understand whether trial protocols are acceptable from the patient perspective.²

Our experience shows that traditional approaches to evidence generation for many rare diseases rapidly reach a dead end due to a lack of appropriate medical codes and data sources, and the difficulty in reaching patients. To remedy this, creative approaches need to be adopted. With limited quantitative data available in health databases, contextual information gained through social media sources should be considered. Analysis of social media for rare diseases can provide a cost-effective means of illuminating the unmet needs, disease burden, opinions, treatments, side effects, and potential misdiagnoses of patients. Such information can also be used to better design patient questionnaires and patient preference studies.

Another way social media forums can be used to better understand the patient perspective is to rely on the close-knit and connected nature of the rare disease community to participate in an online patient questionnaire study. Providing a secure patient questionnaire through social media allows patients in the community to share the link, creating a kind of snowball recruitment that can be highly effective.⁸

Myelodysplastic syndromes (MDS) constitute a rare group of hematopoietic stem-cell disorders¹² that predominantly affect elderly patients.¹³ According to a systematic literature review published in 2016, the global prevalence of MDS ranged from 0.22-13.2 per 100,000 people across all ages, genders, and ethnicities.¹² However, the actual prevalence of MDS is hard to estimate due to underreporting of MDS in cancer registries, and under-diagnosis of MDS in older patients¹⁴ with cytopenias, particularly anaemias due to MDS.

Approximately one in three patients with MDS can rapidly progress to a life-threatening failure of bone marrow or develop acute myeloid leukaemia (AML).¹⁵ The American Cancer Society estimates there will be 21,450 new cases of AML in the US in 2019, mostly in adults,¹⁶ accounting for 1% of all new cases of cancer. Despite advancements in the treatment of hematologic malignancies (with the development of effective targeted and immune therapies), the survival rate of patients with AML is poor. Based on data from the Surveillance, Epidemiology, and End Results program (SEER) 2008-2014, the five-year relative survival rate in patients with AML was 27.4%.¹⁷ Standard treatment approaches in MDS/AML largely depend on MDS risk and other prognostic factors, including patients’ age and comorbidities, and patients’ goals. More aggressive forms of therapy, such as stem-cell transplantations (SCT) and chemotherapy, are usually reserved for younger and fit patients who are at high risk. For elderly or frail patients who are ineligible for chemotherapy or SCT, supportive care is essential for improving quality of life.¹⁸ Given the poor survival rate and significant unmet needs among patients who are ineligible for chemotherapy, it is necessary to understand and incorporate patient and caregiver perspectives and priorities into the development of an optimal care plan.

While traditional research approaches for reaching out to rare disease populations involve surveying patients recruited through disease registries or patient-advocacy groups, social media can offer a different avenue to accessing hard-to-find patient populations.

A growing number of studies have used social media sources to help understand the experiences, burden, preferences, and unmet need for rare disease communities. Kusumgar et al. examined around 7,000 posts from AML patients and caregivers, and the study found that 20 percent of posters were older than 65 years of age, which was somewhat surprisingly high given that social media are more popular in younger ages. Sixty percent of the discussion was conducted by caregivers, who assumed more social media responsibilities when patients relapsed or declined physically.¹⁹ This shows that even if patients are unable to participate in social media, their experiences can still be represented by caregivers.

The study also found that patients and caregivers used social media to seek disease information, emotional support, to set treatment and recovery expectations, as well as to compare their experiences with others. The study also suggested a lack of practical patient-focused education and support via online and offline venues.

Studying healthcare-specific social media forums can support research in rare diseases in many ways, such as helping to find and recruit patients for research studies. Analysing documented conversations can also help to incorporate patient and caregiver perspective into decision making. Social media offers insights comparable to patient surveys and has several advantages, such as reduced timelines to information, alternative perspectives, and analysis of experiences of higher numbers of patients. With much of the discussion and published material for rare diseases too often focused on the medical and scientific perspectives, analysis of social media data can serve the important aim of better representing the patient perspective. Analysis of these data can help to highlight important patient values and help the medical and scientific communities to better communicate with and understand the patients in their care. Furthermore, information gained in this way can help highlight unmet need, which can allow for better development and prioritizing of treatments.