Research

Along with offering expert patient care, a key part of the UNC Epilepsy Neurogenetics Initiative (ENGI) is our translational research. By teaming up with doctors, researchers, and basic scientists, we can:

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;
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;
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 & Collaborations

UNC ENGI is collaborating with:

			Clinical Genomic Analysis (GENYSIS) Core
			Program for Precision Medicine in Health Care (PPMH)

Clinical Trials & Natural History Studies

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

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

An open-label, multicenter study to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of RO7248824 in participants with Angelman syndrome – Roche BP41674
UNC PI—Mark Shen, Co-PI: Zheng (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— Chon Lee, Co-PI’s: Qian-Zhou (Jojo) Yang, Senyene Hunter

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

Rett Syndrome Registry (RSR) – Rett Syndrome Real World Data, Observational study
Site PI: Yael Shiloh-Malawsky; Sub-I: Diana Cejas

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose, Multicenter Study to Examine the Efficacy and Safety of Fenfluramin in Subjects with CDKL5.
Site PI: Qian-Zhou (Jojo) Yang; Co-investigator: Yael Shiloh-Malawsky

N-of-2 individualized ASO study in twins with Batten disease CLN3, phase 1-2, Investigator Initiated Trial. ForeBatten Foundation.
PI: Yael Shiloh-Malawsky; Co-investigators: Zheng (Jane) Fan, Elizabeth Jalazo

Brain waves and peripheral glucose levels during sleep in patients with diabetes
PI: Janice Hwang; Co-PI: Zheng (Jane) Fan

A Phase 3, Randomized, Double-blind, Sham-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects with Angelman Syndrome
PI: Elizabeth Jalazo, Co-investigator: Zheng (Jane) Fan

A Longitudinal MRI Study Characterizing Very Early Brain Development in Infants with Down Syndrome
PI: Joseph Piven, Co-investigator: Zheng (Jane) Fan

Clinical Needs of Individuals with a Chromosome 15 Condition
PI: Margaret DeRamus, Co-investigator: Zheng (Jane) Fan

Find these studies on UNC Research For Me

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)

Stephanie Peck

Pediatric Neurogenetic Research Specialist, Neurology

Madelyn Vavrousek

Clinical Research Coordinator, Neurology

Yulissa Gonzalez