Voices of rare disease patients

More than 25 million people in the U.S. live with rare diseases. In this guest post, Janine Lewis, genetic counselor/project manager at ICF, a global consulting provider working to improve health outcomes, discusses a new movement that is engaging a range of stakeholders to address the needs of this population. ICF is a generous sponsor of the 2017 APHA Annual Meeting and Expo and this blog.

The Wailin’ Jennys song “One Voice” is one of my favorite roots/bluegrass/Americana songs. Apropos of the lyrics, Rare Disease Day 2017 demonstrated a paradigm shift across biomedical research to find systematic ways to capture, integrate and harmonize “the sound of all of us” — patients, industry, academia, public health professionals and federal agencies.

By capturing those voices, promising treatments for more than 25 million people living with rare diseases will be developed more quickly and cost effectively, and will address the most meaningful issues identified by patients. This paradigm shift is underscored by the new 21st Century Cures Act, which recognizes the unique position of patients to provide essential insights about living with disease. Amplifying the patient’s voice and ensuring that all stakeholder voices work together will move us forward.

The benefits of patient-defined values in medical research and clinical trials

The trend to integrate patient-defined values and needs into evidenced-based medical research and clinical practice is growing. People with rare diseases frequently face serious and debilitating conditions that are too often characterized by poor prognosis and limited treatment options. The environmental effects of climate change add an additional layer of complication for many with disabilities for which the people affected are in the best position to define. With scarce dollars for rare disease research and small cohorts, it is critical to design study protocols that:

examine the influence of disease context and patient values on the choice of therapy; and
quantify patients’ benefit-risk preferences.

There is also a movement to ensure the patient’s voice is heard in clinical trial outcomes — what is measured and reported in a specific area of a trial. In assessing the efficacy of a drug or treatment, clinical trials have historically relied on the physician, clinician or clinical trials staff member to record their interpretation of the outcomes-related data. Patient-centered outcome measures is a relatively new concept that aims to place patients, their families and caregivers at the heart of decisions concerning the most valuable criteria in health assessment.

From observation to action: The value behind the translational process

The National Institutes of Health’s National Center for Advancing Translational Sciences, or NCATS, defines “translation” as the process of turning observations in the laboratory, clinic and community into interventions that improve health.

This process relies on active partnership among patients and researchers to collectively decide how to conduct research — from forming basic questions to developing natural history studies, designing clinical trial protocols, obtaining informed consent, defining eligibility and communicating with the U.S. Food and Drug Administration during and after drug approval.

Making progress through FDA initiatives

For example, the FDA’s Patient-Focused Drug Development, or PFDD, initiative, part of the Prescription Drug User Fee Act, was put in place to better understand patients’ perspectives on certain diseases and their treatments. FDA staff have held at least 20 public meetings focused on specific disease areas, and after each meeting a Voice of the Patient report summarizes patient input. FDA staff encourage patient groups and other stakeholders to facilitate externally led PFDD meetings to expand efforts and cover more diseases. To learn how to implement this model, see FDA’s website for guidance.

FDA also has a new patient engagement initiative to facilitate greater patient involvement in FDA decisions.

It’s exciting to see the progress being made through this type of collaboration by one patient group, Parent Project Muscular Dystrophy, which is working closely with FDA to develop new treatments for Duchenne muscular dystrophy, or DMD, one of the most common forms of muscular dystrophy. In March 2017, FDA approved a new treatment for boys living with DMD; it has shown promise in improving muscle strength and delaying the progression of muscle weakness. Read more about this and other promising treatments in the pipeline for DMD.

A movement bringing “all of us” together

This movement in research can be seen in NIH’s Precision Medicine Initiative, renamed the “All of Us Research Program.” NIH is building a national research enterprise with 1 million or more volunteers to extend precision medicine to all diseases. This large-scale research cohort plans to include active participants that reflect the broad diversity of the U.S., across social, racial, ethnic, ancestral, geographic and economic backgrounds, as well as all age groups and health statuses. The program will be data driven to support research at the intersection of lifestyle, environment and genetics, with the goal of developing more effective ways to prolong health and treat disease.

And at NIH’s Rare Disease Day 2017, NCATS announced a number of other new initiatives that will harmonize and standardize data and support greater “people” engagement in the translational process. Here are a couple of examples:

The Global Rare Diseases Patient Registry program will support patient groups, research investigators and physicians who want to develop a rare disease registry by providing data standards tools and guidance on study design.
The Toolkit is a patient group−initiated project to develop a single portal of usable, accessible and practical resources that have been developed by the rare disease community to help empower patient groups in translational research.

If you missed Rare Disease Day, you can watch the webcast or go to the NCATS website to learn more. 2017 saw the largest Rare Disease Day yet!

It’s now up to us to continue to build on this democratic momentum to harmonize our voices and partner for success. We must still overcome many hurdles before we see meaningful accessible treatments for all rare diseases — but with our foresight, passion and vision, we can make it happen!

You can find ICF at APHA’s Public Health Expo in booth 1714 during the upcoming APHA Annual Meeting and Expo in Atlanta, Nov. 4-8, or learn more at icf.com/APHA2017