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Rare Disease Expertise

Lending clarity to complex disease areas

QualityMetric’s rare disease experts provide knowledgeable insight into conditions that are often poorly characterized and researched. We help you document a disease’s etiology, natural history, progression, symptoms and impact.

Patient Care

Rare diseases tend to put patients, providers and caregivers in difficult positions, due to their little-known natural histories and the scarcity of approved treatment options. Patients typically face a life-long treatment journey, plagued by high costs and an endless consumption of medical resources. QualityMetric experts can help identify unmet patient needs through the use of our proprietary databases, analyses of existing data and literature, and by conducting prospective data collection studies.

Drug & Device Development

For pharma companies, study design and replication potential are often restricted by a variety of hurdles – from small patient populations to a lack of validated measures and tools, ethical considerations, and the tendency for rare diseases to be extremely aggressive and life-threatening.

30M
people in the U.S. are living with a rare disease
~7K
different rare diseases are known
95%
of rare diseases have no approved treatment options

Your partner in therapeutic-specific navigation.

Having spent decades in the rare disease space, we equip you with the tools and tactics to navigate the difficulties of rare disease research. Our research experts have helped advance knowledge and conducted studies in a wide array of rare diseases, such as AL amyloidosis, TTR amyloidosis, Duchenne muscular dystrophy, hemophilia, and X-linked hypophosphatemia. Using retrospective patient-reported data, we have also performed exploratory analysis to better understand and communicate the humanistic burden of rare diseases.

Services in Rare Disease Research

Targeted Literature Reviews, Systematic Literature Reviews, &
Meta-Analyses
Provide information related to a rare disease (symptoms, impacts, etc.) and measures used in clinical studies of those diseases.
Qualitative Interviews
Work alongside patient advocacy groups and clinical professionals to conduct qualitative research studies with clinicians, patients, and caregivers.
COA Measurement Strategy
Recommend and develop COAs that are most appropriate for your research purpose.
Study Design & Interpretation
Burden of Disease: Compare functional health status against conditions with a significant impact on quality of life to contextualize patient scores.

Treatment Efficacy: Assist your team in determining study endpoints, trend analyses, categories of change and clinical markers to establish benefits of different treatments.
Psychometric Validation
Evaluate psychometric properties of COAs in a particular disease.
Regulatory Support
Ensure your COA tools adhere to global regulatory standards, including those of the FDA, EMA, and other regulatory agencies worldwide.
Patient Advocacy
We partner with patient advocacy groups to assist in patient recruitment and sustained engagement.