Join the PDCD Natural History Study

PDCD Natural History Study

Your loved one’s diagnosis of Pyruvate Dehydrogenase Complex Deficiency contributes to science’s basic understanding of the disease. Patients in the USA and Canada may enroll in the PDCD Natural History Study being led by UPMC. Participating in the NHS is one of the most important contributions you can make to advancing cures for this disease.

Why this matters:

  • Comprehensive knowledge of a disease is required to design and conduct clinical trials with clinically meaningful end points.

  • For rare diseases, natural history studies play an important role in identifying appropriate patient populations and clinical outcome assessments and biomarkers

  • Beyond their role in drug development, natural history studies may also benefit patients with rare diseases by establishing communication pathways, identifying disease‐specific centers of excellence, facilitating the understanding and evaluation of current standard‐of‐care practices, evaluating signs and symptoms of a disease to improve diagnosis, and identifying ways to improve patient care.

Who can enroll in the Natural History Study?

  • Any family with a PDCD diagnosis in the USA or Canada may enroll.

Do I have to re-enroll if I participated in the previous Natural History Study?

  • Yes, patients will need to re-consent if they began the study when it was at UH.

What is the difference between the Natural History Study and the Patient Registry?

  • Hint: they are both important data collection tools, but they are not the same. See the comparison chart below for a generalized breakdown of the differences between the two. Please note that we are making generalizations to help increase basic understanding.

Goals of this research study

  • The Division of Genetic and Genomic Medicine at UPMC Children’s Hospital of Pittsburgh is conducting a research natural history study for children and adults with pyruvate dehydrogenase complex deficiency (PDCD). The goal of the research study is to collect information about patients with PDCD for future investigational studies and therapies for PDCD. The research team hopes 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, they hope to use this information to guide the development of treatments for different types of PDCD.

  • They are planning to enroll a minimum of 150 subjects with PDCD from medical centers in the United States and Canada. They 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