Study of medical records in propionic acidemia patients
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This is a “chart review” study that looks at how people with propionic acidemia have symptoms and medical events over time. It uses existing medical records (not an experimental drug) to better understand the disease and care needs.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed diagnosis of propionic acidemia from genetic testing (PCCA and/or PCCB gene changes).
- Your (or your legal guardian’s) informed consent is on file; children may need assent.
- Your records must go back to your birth or January 1, 2015 (whichever is later) with enough detail for the study’s event review.
- You had either at least one major metabolic event in the 24 months before the study’s starting date, or at least three major metabolic events in any 12-month period.
- Your medical record clearly shows when your disease started (early=neonatal period, or late).
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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