By leveraging the real-world data resources, patient-informed insights, and the national-scale infrastructure of PCORnet®, investigators are overcoming longstanding challenges in rare disease research. Historically, research in rare health conditions has been limited by small, geographically dispersed patient populations and gaps in natural history data.
A new Research Highlight demonstrates how the PCORnet infrastructure mitigates these barriers to rare disease research through standardized longitudinal clinical data generally not available through existing national surveillance systems.
The engaged, research-ready community of PCORnet – including patients, caregivers, clinicians, health system leaders, and others – sets it apart from other research networks. By integrating the lived experience and expertise of community partners throughout the research lifecycle, PCORnet® Studies ensure that outcomes are meaningful and actionable for patients, families, and clinicians.
Real-World Impact Across Rare Disease PCORnet® Studies
The Rare Disease Research Highlight features multiple case studies that demonstrate how PCORnet enables investigators to conduct impactful, patient-centered research across a range of rare conditions. Using PCORnet, researchers:
- Are conducting a multicenter study in Lennox-Gastaut Syndrome, the first to directly compare epilepsy surgery to additional anti-seizure medications, to identify the most effective options for improving outcomes in children with severe epilepsy.
- Conducted the largest behavioral intervention trial in sickle cell disease to date to evaluate the effectiveness of mobile-delivered cognitive behavioral therapy to help patients better manage pain and improve their quality of life.
- Developed an algorithm using the PCORnet® Common Data Model, informed by patient and clinician insights, to improve recruitment in research to examine care transitions in congenital heart disease and identify factors associated with gaps in recommended treatment across rare disease subtypes.
- Expanded the PCORnet® Common Data Model for pediatric and rare disease research through a pediatric kidney disease study that used real-world data and patient engagement to better understand disease management and preserve kidney function in children.
Together, these studies highlight how the PCORnet infrastructure supports both observational and interventional research to generate evidence that can improve care for patients living with rare diseases.
Enabling Better Research and Better Outcomes
Researchers who partner with PCORnet have access to insights from high-quality health data from eight PCORnet® Clinical Research Networks, engaged communities and Patient Partners, and research expertise. By leveraging PCORnet, researchers can access:
- Data from everyday healthcare encounters with more than 50 million people annually across the U.S. to better understand disease progression
- Proven, low-burden models for pragmatic research to minimize burden on participants
- Patient engagement resources that drive meaningful research and results
PCORnet resources are available to researchers across academic, industry, and patient advocacy organizations, helping accelerate the generation of real-world evidence to improve health outcomes in rare diseases.
Other research highlights include PCORnet® Studies in pediatric populations and cardiovascular, metabolic, and nephrology conditions.
Knock on the PCORnet® Front Door to begin your next patient-centered study.