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07.22.21

The Case for Custom Clinical Outcome Measures in Rare Disease Research

In the United States, more than 30 million people live with one of nearly 7,000 known rare diseases.1 Rare diseases affect extremely small segments of the population—by definition, fewer than 200,000 individuals1—and they leave researchers with even smaller patient populations to use in discovering new therapeutic options. As children make up around half of those living with rare diseases, accurate diagnoses often take years to achieve, and some very rare diseases are left undiagnosed.2

With little published evidence, there’s still much we have to learn about the natural history, clinical outcomes and patient experiences associated with rare diseases.

One way healthcare professionals are building upon this existing knowledge is by observing the impact of rare diseases and their treatments on patients using clinical outcome assessments (COA). These assessments gather data from patients, caregivers and clinicians to understand how patients feel or function while living with various conditions. In the realm of rare disease, COA solutions like patient-reported outcome (PRO) tools can help expose unmet needs in rare disease clinical trials, find new opportunities to improve patients’ quality of life and achieve several critical research aims.

Common COA Solution Applications

  • Illuminate the Burden of Disease
  • Assess Health Fluctuation
  • Understand Clinical Trial Needs
  • Validate the Clinical Meaningfulness of Clinically Derived Efficacy Endpoints in Trials
  • Measure & Monitor Treatment Efficacy
  • Evaluate Medical Devices & Programs
  • Draw Program, Provider & Patient Comparisons
  • Predict Future Health Risks & Costs
  • Optimize Marketing & Label Claims

COA & the Continued Growth in Rare Disease Research

In a push to increase the development of new treatments, hopeful rare disease patient advocacy groups led the charge in 1983 for the Orphan Drug Act, which offered tax credits for R&D expenses and financial incentives for approved orphan disease drugs.3 The law played a large part in boosting commercial investment in research and development and contributed to the large number of related clinical trials conducted in the last three decades.

Interest in rare disease treatment research is seeing sustained growth, and as the healthcare industry continues to embrace the era of patient-focused drug development, more professionals are leveraging clinical outcome measures as a way to fill gaps and meet the unique needs of the rare disease population. Measuring patient outcomes using disease-specific COA instruments helps researchers and medical professionals collect more meaningful data on the symptoms, experiences, quality of life and functional health and well-being of those impacted by a rare disease.

The Role of PROs in Rare Disease Research

Patient-reported outcomes, or validated health surveys, are designed to include questions on key measurement concepts that uncover the nuances of patient experiences from their own personal perspectives. Effective PRO tools, like the SF-36v2® Health Survey from QualityMetric, have physical and mental components and cover several health domains to support informed decision-making for a variety of health-related outcomes. Consistent with the mandate for patient-focused drug development, PROs can be used to evaluate drug efficacy and safety as either primary or secondary endpoints that provide valuable data in a matter of minutes, often in real time.

Health Domains Covered by the SF-36v2®

  • Physical Function
  • Role-Physical
  • Bodily Pain
  • General Health
  • Vitality
  • Social Function
  • Role-Emotional
  • Mental Health

To apply patient-reported outcomes is to recognize the truth in a concept many of us have learned from our obsession with big data: identifying core focus areas and gathering truly relevant information typically yields better results than collecting a large volume of possibly relevant data across a wide variety of areas. Especially in the field of rare disease research, it’s important to use the right instruments to measure the right outcomes for a condition.

With targeted PRO tools, researchers are able to improve their understanding of disease-specific symptoms, quantify the impact of the disease and certain medical treatments and use efficient data collection to cut R&D costs. With insights from PRO data, medical professionals can find new ways to improve how they diagnose and treat their patients. And with the knowledge gained from PRO results, patients can make more informed decisions about their care to enhance their own well-being.

Creating a Custom COA Measurement Strategy

It can be challenging to choose which outcomes to measure, but developing a custom COA measurement strategy that incorporates targeted patient-reported outcomes, observer-reported outcomes (ObsROs) or clinician-reported outcomes (ClinROs) can make all the difference in rare disease research and drug and device development initiatives. A smart first step is working with a COA solutions provider that can not only tailor tools to your needs but offer guidance on what concepts are worth examining to accurately capture disease impact and patient experiences. Experienced research consultants can help you construct or refine your measurement strategy and support evidence generation for new label claims that reflect therapeutic value for patients.

Opportunities for COA Solution Provider Support

  • Systematic Literature Reviews in Rare Disease
  • Qualitative Research Interviews
  • COA Psychometric Validation
  • Clinical Endpoint Selection
  • Patient Recruitment & Engagement
  • Study Design & Interpretation
  • Evidence Generation Plans
  • Expert Regulatory Guidance

QualityMetric’s multidisciplinary team of scientists, researchers and health experts have decades of experience supporting clinical outcome measures for many rare diseases, including AL Amyloidosis, TTR Amyloidosis, Duchenne muscular dystrophy, hemophilia, X-linked hypophosphatemia, sickle cell disease and cold agglutinin disease. Our proven end-to-end methodology has helped researchers develop more than twenty-five proprietary instruments and our expertise has led to regulatory approved PRO label claims.

If you’re interested in collecting meaningful data across the healthcare continuum from the people whose experiences matter most, navigate your next rare disease research project using targeted PRO tools.

Learn more about QualityMetric’s specific expertise in rare disease research and how PRO solutions can generate valuable evidence for new therapies and devices in the infographic Overcoming Challenges in Rare Disease Research.

Download Infographic

Sources

  1. Genetic and Rare Diseases Information Center (GARD). FAQs About Rare Diseases. National Institutes of Health. 2021. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
  2. Batshaw ML, Groft SC, Krischer JP. Research into rare diseases of childhood. JAMA. 2014;311(17):1729-1730. https://www.doi.org/10.1001/jama.2013.285873
  3. Swann, J. The story behind the Orphan Drug Act. U.S. Food and Drug Administration. 2018. https://www.fda.gov/industry/orphan-products-development-events/story-behind-orphan-drug-act