Review of Charts From Amish/Mennonite Variant PA Patients

Completed

Conditions studied: Propionic Acidemia

In brief

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.

Key facts

Study ID

NCT03159026

Run by

University of Pittsburgh

People needed

38

Starts

2017-04-06

Expected to finish

2022-09-05

Last updated by the study team

2026-01-29

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Patients homozygous for the PCCB c.606A>G mutation

You may not qualify if…

• Patients who are not homozygous for the PCCB c.1606A>G mutation

Where it is running

• Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States

Full record on ClinicalTrials.gov

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