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The purpose of this study is to gather patient data into a registry, producing a database to help researchers characterize changes in blood disease biomarkers over time and the frequency and severity of clinical events related to methylmalonic acidemia and propionic acedemia (MaP).
Subject to certain exclusion criteria, the study is accepting patients of both genders, of all ages, who have a diagnosis of methylmalonic acedemia (mutase deficiency subtype) or propionic acidemia.
Males and Females: All ages
Medical record information, including biologic samples and results of blood tests and other assessments, will be added to the MaP database by the participants’ doctors. Additionally, participants will be requested to complete questionnaires related to their health and quality of life.
Visits: None beyond routine clinical care for the condition
Duration: 12 to 36 months, depending on date of enrollment
Study Description at National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Sandra Braden, RN
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
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.