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Through this study, researchers will be collecting and analyzing data about patients with conditions related to inborn errors of metabolism. The study collects observational and standard-of-care data, but does not involve any treatment or intervention. Analysis may lead to insights that will help physicians learn more about treating people with these conditions. Additionally, the database will help researchers identify and recruit patients eligible for participation in future studies.
Patients diagnosed with one of a list of defined metabolic disorders (PDF), who are seeking treatment or are being treated at the Inborn Errors of Metabolism Clinic at Children’s Hospital of Pittsburgh of UPMC are invited to participate in this Research Registry.
Males and Females: All ages
With consent, physicians will provide medical history information, lab results and imaging reports about their enrolled patients for inclusion in the study database.
Visits: None beyond normal clinical care
Duration: Not applicable
Medical Genetics Division, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Catherine M. Walsh Vockley, MS, LCGC
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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