Results Summary

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.


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.


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.


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.


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.


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.

Project Information

Pamela H. Williams, JD, PhD, RN
University of Arkansas for Medical Sciences^
A Community Partnership Approach for Advancing Burden Measurement in Rare Genetic Conditions

Key Dates

June 2012
June 2015

Study Registration Information

^Pamela H. Williams was affiliated with the Medical University of South Carolina when this project was funded.


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Last updated: March 4, 2022