Review of Charts From Amish/Mennonite Variant PA Patients

Brief Title

Review of Charts From Amish/Mennonite Variant PA Patients

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

Detailed Description

      The study is designed to provide a comprehensive description of the clinical and biochemical
      features of propionic academia, Amish/Mennonite variant (PA-AMV). From these data, the
      investigators hope to identify biomarkers for assessment of clinical course and efficacy of
      ongoing management.

      The investigators plan to identify essentially all known patients who have the
      Amish/Mennonite variant of Propionic academia (PA-AMV) through collaboration with clinicians
      who proved care to this extended community. Signed consents include permission to access
      life-long medical records to allow investigators to define the natural history of this
      biochemical variant condition. This will include a description the clinical and biochemical
      features and natural history of patients with propionic acidemia in the Amish/Mennonite
      population. In particular, there is interest in the cardiac complications of this variant, so
      investigators will analyze EKG, echo and cardiac MRI findings in above patients. These data
      will be used to Identify biomarkers for clinical assessment and ongoing management.

      There has been no published data on patients with PA-AMV since 1980. Accumulated clinical
      experience with PA Amish/Mennonite variant patients suggests that these patients tend to have
      less severe clinical features compared to classic PA. Severe neonatal metabolic
      decompensation and ketoacidosis are not present in Amish/Mennonite patients we have followed.
      Describing the natural history and clinical course is essential in this group of patients to
      further guide their management. There is currently no evidence-based approach to care of
      these patients, but rather individual medical centers manage patients symptomatically and
      differently. A uniform, data-driven approach to patient management is needed.

Study Type


Primary Outcome

Clinical and biochemical natural history of Amish/Mennonite PA variant


Propionic Acidemia


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

April 6, 2017

Completion Date

April 15, 2022

Primary Completion Date

April 15, 2022

Eligibility Criteria

        Inclusion Criteria:

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

        Exclusion Criteria:

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




N/A - N/A

Accepts Healthy Volunteers



, 412-692-7349, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

University of Pittsburgh

Study Sponsor

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Verification Date

January 2021