Clinical Trial: Review of Charts From Amish/Mennonite Variant PA Patients

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational




Official Title: Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia

Brief Summary: The natural history of patients with PA-AMV has not been systematically studied before and there is no published data in the literature about this condition since 1980. There is no evidence-based approach to care of these patients, particularly the younger patients who may no come to medical attention until significant cardiac problems develop. Through systematic review of existing medical records on essentially all known patient with this condition, investigators plan to develop an evidence-based management plan for preventive care of these patients.