A prospective study of biochemical parameters reflective of metabolic control in propionic acidemia

Individuals of any age with propionic acidemia who have not had a liver transplant may be eligible to take part in a research study on biomarkers

being done by Dr. Loren Pena at Duke University Medical Center.


  • All information and samples (blood and urine) for the research study will be taken during regular visits to a geneticist/metabolic physician and during times of hospital admission. No extra visits to a doctor are needed.
  • Information and samples will be sent from the geneticist/metabolic physician to the research staff at Duke.
  • The cost of sending samples to Duke will be covered by the study. You will not be paid for taking part in the study.


Study goals

Biomarkers are compounds that can be measured by laboratory tests in body fluids such as blood and urine and are helpful in predicting disease states. For example, cholesterol level is a biomarker for heart disease. For patients with some metabolic disorders, biomarkers can be helpful in guiding treatments (such as the amount of protein a person can eat) and can predict whether a person is at risk to develop a health problem associated with that metabolic disorder. Currently, there is no standard set of laboratory tests recommended to help guide treatment for people with propionic acidemia. This is because little is understood about which biomarkers are most helpful. The goals of this study are:


  • To better understand how different biomarkers can be used to guide treatment in people with propionic acidemia
  • To investigate whether a specific disease process called oxidative stress is involved in propionic acidemia
  • To look at specific risk factors for pancreatitis in people with propionic acidemia.



For more information, please contact:

Jennifer Goldstein, PhD, CGC
Study Coordinator
Phone (919) 684-0626
[email protected]