Review of Charts From Amish/Mennonite Variant PA Patients

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

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.

Study Overview

• Status: Recruiting
• Conditions: Propionic Acidemia

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: Observational
• Enrollment (Anticipated): 150

Contacts and Locations

• Study Contact: Name: Jennifer Baker, MA; Phone Number: 412-6926378; Email: jennifer.baker@chp.edu

Study Locations

• United States
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15224
      • Recruiting
      • Children's Hospital of Pittsburgh
      • Contact: Lina Gonzalez, MD; Email: lina.gonzalez@chp.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Amish and Mennonite individuals who have been diagnosed as having the PA-AMV form of propionic academia as characterized by the presence of homozygous PCCB c.1060A>G.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical and biochemical natural history of Amish/Mennonite PA variant	Chart review to describe clinical and biochemical features of Amish/Mennonite PA variant	Through study completion, an average of one year.

Collaborators and Investigators

• Sponsor: University of Pittsburgh
• Investigators: Principal Investigator: Lina Ghaloul-Gonzalez, MD, University of Pittsburgh

Study record dates

Study Major Dates

• Study Start (Actual): April 6, 2017
• Primary Completion (Anticipated): April 15, 2025
• Study Completion (Anticipated): April 15, 2025

Study Registration Dates

• First Submitted: April 12, 2017
• First Submitted That Met QC Criteria: May 17, 2017
• First Posted (Actual): May 18, 2017

Study Record Updates

• Last Update Posted (Estimate): May 4, 2023
• Last Update Submitted That Met QC Criteria: May 2, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: Amish/Mennonite variant
• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Amino Acid Metabolism, Inborn Errors; Propionic Acidemia
• Other Study ID Numbers: PRO16110176

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No