PCORI funded the Pilot Projects to explore how to conduct and use patient-centered outcomes research in ways that can better serve patients and the healthcare community. Learn more.

Background

In North America, more than 30 million patients—1 out of every 10 people—have a rare disease recognized by the National Institutes of Health. Compared with common diseases, rare diseases

• Get less money for research
• Have fewer affordable treatment options
• Get less attention from the public

Living with any disease can be hard. But people who have rare diseases face extra challenges. People with rare diseases may

• Find that most doctors don’t know about their disease
• Have trouble getting the care they need—and may give up on the healthcare system
• Feel singled out or looked down on by other people
• Worry about losing their health insurance

Experts call these types of challenges burdens—and they can affect a person’s health and well-being. To better help people with rare diseases, it’s important to learn more about these burdens.

Project Purpose

The research team brought people with a rare disease together to figure out how to measure the effect of these burdens on their health and care. Their goal was to develop a survey for people with rare diseases that asks about these burdens. For this study, the research team focused on patients who have a rare genetic disease called alpha-1 antitrypsin deficiency disorder, which can cause lung disease.

Methods

This study used a community-based research partnership model in which patients and community leaders work alongside the researchers. The researchers trained patients and community leaders so they could participate in all research activities, such as

• Interviewing people about what it was like to live with the disease
• Writing survey questions based on what they learned
• Testing the survey with patients

The people who joined the research team included

• Patients with alpha-1 antitrypsin deficiency disorder
• Nonprofit foundation leaders
• Doctors
• Experts from the Alpha-1 Foundation

The research team interviewed participants and held focus groups at Alpha-1 Foundation meetings in West Virginia, Oklahoma, Texas, Florida, South Carolina, Colorado, Barcelona (Spain), and Washington State. Some interviews were conducted by telephone. In all, the research team talked to 42 patients and caregivers.

Researchers used what they learned from interviews and focus groups to create the Social Burden Scale, a survey that seeks to measure the burdens faced by patients with a rare disease. The research team then put the survey online and tested it with 200 alpha-1 participants.

Findings

The research team found that the two main types of burdens were related to

• How rare the disease is
• The genetic cause of the disease

Within these two burden types, the research team found many specific challenges, such as

• Delays in getting treatment
• Doctors’ not knowing much about this disease
• The effect of a genetic disease on families

Each one of these issues affects how patients feel and behave.

Limitations

The survey was tested with a small number of people who had—or were concerned about—alpha-1 antitrypsin deficiency disorder. Researchers might find different burdens if they talked to people with other rare diseases.

Conclusions

The researchers were able to work with patients to identify and measure the burdens faced by patients with alpha-1 antitrypsin deficiency disorder. The survey could help doctors understand how these burdens affect patients.

Sharing the Results

The researchers shared the community-based engagement model with another group of people living with a different rare disease. This group also used the new Social Burden Scale for a six-month test.

The researchers received funding from a Eugene Washington Training award to figure out the best ways to train people taking part in the rare disease community-based research partnership model.

PCORI funded the Pilot Projects to explore how to conduct and use patient-centered outcomes research in ways that can better serve patients and the healthcare community. Learn more.

Project Purpose

In North America alone, the rare diseases recognized by the National Institutes of Health affect an estimated 30 million persons or 10% of the population. Rare diseases result in negative health outcomes (burden) independent of their pathological symptoms. Features of the burden include: sparse research resources, treatment options, and knowledgeable providers, leading to diagnostic delay that affects patient outcomes; lack of access to adequate care; lost faith in the healthcare system; lack of public awareness and concern; scarce affordable options for medications, drugs, and therapeutics; stigma; and insurability concerns.

This pilot project attempted to address two questions: (1) How can a rare disease community use community research partnership approaches to measure social burden related to their health care and health? and (2) What constructs should be measured through a scale administered to the patient community?

Study Design

The study design included traditional methods of instrument development (focus groups, interviews, item generation and field-testing). A community-based research partnership conducted all research activities. Patients and community leaders were first trained and then involved at each step of the research process, including conducting interviews, designing scale items, recruiting for field-testing, and qualitative data analysis. The resulting Social Burden Scale for patients living with rare genetic conditions is a patient-driven and designed measure of community members’ perceptions.

Participants, Interventions, Settings, and Outcomes

Participants in this study were stakeholders from the Alpha-1 Antitrypsin Deficiency disorder community, including patients, nonprofit foundation leaders, providers, and the Alpha-1 Research Patient Registry engaged in this study. Sampling and recruiting occurred with the support of the registry and the Alpha-1 Foundation educational conferences held throughout the United States. Patients recruited each other using social media, email, and the Internet.

The setting for interviews and focus groups was mainly regional, state, or European patient education conferences, sponsored by the Alpha-1 Foundation. Locations of focus groups and interviews included West Virginia, Oklahoma, Texas, Florida, South Carolina, Colorado, Barcelona (Spain), and Washington. Regional meetings pulled in patients living all over the United States and Europe. The focus groups were held at conference centers and hotels in communities across the United States, and at a hospital in Denver, Colorado. Some interviews were conducted by telephone. The Social Burden Scale was administered and patients responded online.

The Social Burden Scale for patients living with rare genetic conditions measures several constructs. This pilot’s outcome of interest was the psychometric development and performance of a scale. Specifically, researchers measured the scale’s content and construct validity and reliability.

Data Analysis

Qualitative data from focus groups and interviews were coded using deductive and inductive analysis strategies. A team conducted the coding and team members audited each other’s coding. Themes that emerged from the narrative statements became constructs for developing scale items.

Findings

Qualitative analysis determined two major burden constructs: (1) the condition’s rarity and (2) its genetic etiology. Sub-constructs attributed to the major constructs included: diagnostic delay, lack of knowledgeable providers, and burdens related to family implications of genetic information. Researchers also found that for each sub-construct, there was identifiable psychosocial sequelae.

Limitations

Field-testing was limited and more is necessary to better understand the scale’s validity and reliability in other rare disease populations. This study was limited to patients with one common rare condition.

Conclusions

Persons living with Alpha-1 antitrypsin deficiency disorder may experience socially driven burdens associated with healthcare disparities. However, the social burden of living with this rare disease has latent, measurable constructs, and this work advances methods to study those constructs.