PDCD OVERVIEW UPDATES ON NATURAL HISTORY STUDY, THERPEUTICS, AND NEWBORN SCREENING
March 26th, 2024 6-7:30 pm EST- This presentation is for friends, families and donors impacted by PDCD. This talk will include a brief introduction of PDCD, an update on the Natural History Study, small molecule therapy, newborn screening, and standards of care, with generous opportunities to ask questions!! Join us from the comfort of your home!
RSVP by 03/21/2024 to ewattpdcdresearchfund@gmail.com to get the link!
The Division of Genetic and Genomic Medicine at UPMC Children’s Hospital of Pittsburgh is conducting a patient research registry for children and adults with pyruvate dehydrogenase complex deficiency (PDCD).The goal of the research registry is to collect information about patients with PDCD for future investigational studies for PDCD therapies. We hope to learn how factors like a person’s genetic make-up, dietary choices, and environmental exposures combine to influence disease progression by collecting medical record (MR) information and biological samples (such as blood, or discarded tissue samples) from patients with PDCD. Ultimately, we hope to use this information to guide the development of treatments for different types of PDCD.
We are planning to enroll 150 subjects with PDCD from medical centers in the United States and Canada. We are also asking for family participation because PDCD is an inherited disorder. Studying both affected and unaffected family members may help us to better understand the clinical significance of the disease. As part of the study, we ask you to complete an annual questionnaire, collect and review medical records, and collecting blood for genetic testing if necessary.
If you/your child are interested in learning more and/or participating, please contact the Principal Investigator (Dr. Jirair K. Bedoyan) or his research coordinator (Ms. Danielle Black) at the number provided below to receive additional information.
Principal Investigator: Dr. Jirair Bedoyan, MD, PhD, FACMG
Study Coordinator: Danielle Black, MPH
UPMC Children’s Hospital of Pittsburgh
Division of Genetic and Genomic Medicine
4401 Penn Avenue, Pittsburgh, PA 15224
412-692-6893
Learn about PDCD from expert presenters
April 3, 2023 - Learn what PDCD is, how it affects the body, and how Dr. Bedoyan's novel target-based small molecule research study would advance the care and treatment of those with PDCD
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