Research

In addition to providing expert patient care, an important component of the UNC Epilepsy Neurogenetics Initiative (ENGI) is our translational research. Through physician partnerships with research collaborators and basic scientists, we are able to:

• Provide state-of-the-art care — connecting families to local, regional and national studies;
• Link patients to genetic-specific treatment and clinical trials;
• Identify pathogenic gene variants and candidate risk genes;
• Improve understanding of cellular, molecular and nervous system function;
• Study the best practices to guide future implementation of genomic technologies; and
• Take part in clinical trials and translational research in the field.

ENGI Patient Registry

Our patient registry provides UNC researchers with invaluable information. Specifically, it allows us to:

• Identify previously unreported gene changes that cause or contribute to epilepsy;
• Clarify the natural history of genetic diseases and report novel disease phenotypes; and
• Clarify the epidemiology and potential health care disparities in epilepsy and neurogenetics.

Anyone with epilepsy may potentially be included in the registry if they fit the criteria. Please contact us for more information.

Research projects and collaborations

• UNC has joined Epi25! Epi25 is an NINDS-funded collaborative committed to curing genetic epilepsies. Participants meeting enrollment criteria receive sponsored genome sequencing.

Article: Epilepsy Genetics: What Once Was Rare, Is Now Common

We are now enrolling! Contact us for more information.

• North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing (NCGENES)

• Program for Precision Medicine in Health Care (PPMH)

Clinical trials

• Trofinitide in Rett’s Syndrome, phase 3 clinical trial, UNC site
  • Site PI: Yael Shiloh-Malawsky; co-PIs: Jane Fan, Diana Cejas

• DRPLA natural history trial – Ataxia UK and CureDRPLA grant
  • Site PI: Yael Shiloh-Malawsky; co-PIs: Jane Fan, Diana Cejas

• Using wearable devices to detect non-epileptic myoclonus in individuals with Angelman syndrome – Tracs 50K grant
  • UNC PI: Jane Fan; RTI PI: Hegarty-Craver; co-PI: Liz Jalazo, MD

•  A multicenter, double-blind, randomized, placebo-controlled, parallel-group study with open-label extension phase of Lorcaserin as adjunctive treatment in subjects with Dravet syndrome
  • PI: Chon Lee; co-PI: Senyene Hunter

• An open-label, multicenter study to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of RO7248824 in participants with Angelman syndrome – Roche BP41674
  • UNC PI—Jamie Capal, Co-PI Jane Fan

• Marinus Phase 3, Randomized, double-blind, placebo-controlled trial of adjunctive Ganaxolone (GNX) treatment in children and adults with tuberous sclerosis complex (TSC)-related epilepsy
  • UNC PI—Jamie Capal, Co-PI’s Chon Lee, Jojo Yang, Senyene Hunter

• Chromosomal disorganization in Down syndrome – Tracs 50 K grant
  • PI: Hyejung Won, Co-investigator Jane Fan

Contact Us

Contact us to learn about the ongoing clinical trials, basic science and translational (bench-to-bedside) research being conducted at UNC.

Neurology Clinical Trials Unit (NCTU)

• Susan E. Wilson, DNP, RN, ANP-BC, Associate Professor, Department of Neurology, Director, Neurology Clinical Trials Unit
• Yulissa Gonzalez, NCTU research coordinator