Each year on the last day of February, Rare Disease Day raises awareness for the more than 30 million people in the U.S. living with rare diseases. In honor of Rare Disease Day, we are shining a spotlight on a PCORnet® Study addressing one such condition: Lennox-Gastaut Syndrome (LGS). LGS is a severe form of epilepsy that begins in early childhood, causing multiple types of drug-resistant seizures, cognitive impairments, and significant challenges for families seeking effective treatment options. LGS is a challenging condition to study due to its rarity and variability, but with access to insights from the everyday health encounters of 47 million people across the U.S., the PCORnet infrastructure is uniquely positioned to support this research.
Addressing the Challenges of Lennox-Gastaut Syndrome
Children and young adults with LGS may experience hundreds of seizures per week and are often unresponsive to standard treatments. Families navigating this complex disorder frequently face uncertainty about which therapies—whether additional medications or surgical interventions—will offer the best possible quality of life. The study, led by Principal Investigator Sandi Lam, MD, MBA, at Ann & Robert H. Lurie Children’s Hospital of Chicago, aims to address this question using the PCORnet infrastructure while also establishing foundational knowledge to support future research into LGS.
“One of the major challenges in studying LGS is that there is no established computable phenotype,” said Dr. Lam. “By leveraging the vast data resources available through the PCORnet infrastructure, we have an opportunity to develop a standardized way to identify LGS patients within electronic health records. This is critical because having a reliable method to identify and study LGS at scale can help researchers uncover new insights, improve diagnoses, and ultimately lead to better treatment options for these patients and their families.”
Once the computable phenotype is established after multicenter manual chart review of almost a thousand patients, the study team will use it to conduct a comparative clinical effectiveness study exploring the records of thousands of patients to determine whether medication or surgery is most likely to improve the clinical outcomes important to children with LGS and their caregivers.
PCORnet: Unique Advantages for Patient-Centered Rare Disease Research
The study involves five PCORnet® Clinical Research Networks (CRNs) working together to provide comprehensive, high-quality data:
- Greater Plains Collaborative (GPC)
- OneFlorida+
- PaTH
- PEDSnet
- STAR
As with all PCORnet® Studies, a key component of this research is its strong patient engagement approach. In partnership with the LGS Foundation, researchers are incorporating insights from families living with LGS to ensure the study reflects what matters most to patients. One aspect of this work focuses on gathering input from patients and their caregivers on the best ways to collect patient-reported data.
“Our hope is that this study can start delivering answers that reflect the needs of the LGS community,” said Dr. Lam.
Dr. Lam and her team expect to publish study results in early 2026.
Are you interested in leveraging the PCORnet infrastructure to power your next rare disease research effort? With a new PCORI funding opportunity coming soon, now is the time to reach out. PCORnet is a national resource open to all, regardless of research affiliation or funding source. Visit the PCORnet® Front Door to get started.