Our Research
Rare Disease Center Research Network: Urea Cycle Disorders Consortium (UCDC)
Neuroimaging biomarkers in UCDs
Primary Investigator
Andrea Gropman, M.D.
Co-investigators
Kuntal Sen, M.D., (neurogenetics fellow)
Matthew Whitehead, M.D.
John vanMeter, Ph.D.
EEG and subclinical seizures in patients with UCDs
Primary Investigator
Andrea Gropman, M.D.
Co-investigators
John Schreiber, M.D.
Summary
Multimodal longitudinal imaging study using structural, fMRI, 1H MRS and DTI correlating findings with neurocognitive outcome.
This study investigates the incidence of subclinical seizures in patients with UCDs and correlates with outcome
Funding
National Institute of Child Health and Human Development (NICHD) of the National Institutes of Health (NIH) and the National Center for Advancing Translational Sciences (NCATS)
Rare Disease Center Research Network: North American Mitochondrial Disease Consortium (NAMDC)
Primary Investigator
Andrea Gropman, M.D.
Summary
Multimodal longitudinal imaging study using structural, fMRI, 1H MRS and DTI correlating findings with neurocognitive outcome.
This study investigates the incidence of subclinical seizures in patients with UCDs and correlates with outcome.
Funding
National Institute of Child Health and Human Development (NICHD) of the National Institutes of Health (NIH and National Center for Advancing Translational Sciences (NCATS)
Mito Epigen Projects:
- MELAS
- LHON
Primary Investigator
Anne Chiaramello, Ph.D. (GWU)
Deputy Clinical Director
Andrea Gropman, M.D.
Summary
These studies use human fibroblasts to evaluate mitochondrial bioenergetics and test small molecules for precision treatment.
Funding
NINDS/Department of Defense (DoD)
49, XXY studies: Longitudinal Study, fNIRs on Language Function
Primary Investigator
Andrea Gropman, M.D.
Summary
These studies involve neuroimaging and neuropsychology to phenotype patients with 47 XXY, 47 XYY, 48 XXXY, 48 XXYY, 49, XXXY, 47 XXX.
Funding
Philanthropy
fNIRIs Studies in Urea Cycle Disorders
Primary Investigator
Andrea Gropman, M.D.
Co-investigator
Kosar Khaksari, Ph.D.
Summary
These studies use noninvasive imaging to probe neurocognitive function in patients with UCDs.
Funding
O’Malley Family Foundation
Industry-Sponsored Studies:
- DCA in Pyruvate dehydrogenase deficiency
- A phase 2 safety, tolerability, pharmacokinetic and pharmacodynamic study in MELAS
Primary Investigators
Andrea Gropman, M.D.
Jeffrey Strelzik, M.D.