Clinical Research Studies

Dr. Juan Pascual, MD, PhD

Juan M. Pascual, MD, PhD
Principal Investigator

Juan Pascual, M.D., Ph.D., has special clinical research expertise in glucose metabolism, mitochondrial and unusual degenerative and multi-organ disorders. As one of the few pediatric neurologists in the nation who is also a laboratory scientist and an adult neurologist, Dr. Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance (NMR) both in human subjects and in models of human diseases.

UT Southwestern aims to foster translational research that makes a real difference in clinical care by moving discoveries “from bench to bedside.” The Rare Brain Disorders Clinic and Laboratory embodies this call and plays a key role in translational research efforts including programs funded by the National Institutes of Health. Currently, scientists in the laboratory are pursuing five key areas of investigation:

  • Development and improvement of treatments for patients with rare diseases
  • Whole genome testing to diagnose disorders by fully screening each patient’s DNA
  • Brain imaging based on magnetic resonance imaging (MRI) for precise, noninvasive diagnosis and monitoring
  • Examining single brain cells in culture to identify mechanisms of rare diseases
  • Generating disease models to test the safety and effectiveness of potential treatments for rare brain disorders

Studies

The laboratory leads a variety of clinical studies and clinical trials. Please email rare.diseases@utsouthwestern.edu for information if you are interested in participating in any of these studies:

  • Treatment Development for Glucose Transporter Type I deficiency syndrome (G1D)
  • Distribution of Markers of Inherited Metabolic Diseases
  • Repository for the study of the molecular basis of rare and undiagnosed encephalopathies 
  • NMR observation of muscle and brain oxidative metabolism
  • North American Mitochondrial Disease Consortium
  • Treatment Development for Adult Polyglucosan Body Disease (APBD) due to deficiency of Glycogen Brancher Enzyme (GBE)
  • Biochemical, Clinical, Radiologic and Genotypic Analysis of MELAS, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes CLOSED