Inborn Errors of Metabolism Registry

Inborn Errors of Metabolism Information System (IBEM-IS)

Protocol Description

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.

Eligibility Criteria

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

Status: Open to Enrollment

Source(s) of Support

Division of Genetic and Genomic Medicine, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC

Additional Information

Genetic and Genomic Medicine Research

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Catherine M. Walsh Vockley, MS, LCGC