PDCD RESEARCH

Thanks to the dedication and the hard work of the Elizabeth Watt PDCD Research Fund, PDCD was added to a pilot study for newborn screening in Ohio in 2019.

The Hope for PDCD Foundation hopes to see PDCD added to the newborn screen per Dr. Bedoyan’s pivotal pilot study. From a pilot newborn screening study in Ohio, Dr. Bedoyan and Dr. Suzanne DeBrosse discovered the incidence of PDCD is at least 1 in 41,138 live births (~90 newborns annually in the USA). That means that PDCD is more common than ALS (Amyotrophic lateral sclerosis), yet lacks nearly the same level of awareness and funding.

We are cautiously optimistic that PDCD will be added to the Recommended Uniform Screening Panel (RUSP), which is a list of disorders that the Secretary of the Department of Health and Human Services (HHS) recommends for states to screen as part of their state universal newborn screening (NBS) programs.

Disorders on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. While the ketogenic diet is not a cure, it is a very effective treatment for PDCD. It stabilizes the patients, helps prevent seizures and metabolic strokes, and helps prevent developmental regression during times of illness. Read our Newly Diagnosed page to learn more about initiating a ketogenic diet.

Watch Dr. Bedoyan’s presentation on Pyruvate Dehydrogenase Complex Deficiency to the Newborn Screening Translational Research Network on Sep 30, 2022 to learn more.