NCT03159026

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
38

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Apr 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 6, 2017

Completed
6 days until next milestone

First Submitted

Initial submission to the registry

April 12, 2017

Completed
1 month until next milestone

First Posted

Study publicly available on registry

May 18, 2017

Completed
5.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 5, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 5, 2022

Completed
Last Updated

January 29, 2026

Status Verified

January 1, 2026

Enrollment Period

5.4 years

First QC Date

April 12, 2017

Last Update Submit

January 27, 2026

Conditions

Propionic Acidemia

Keywords

Amish/Mennonite variant

Outcome Measures

Primary Outcomes (1)

  • 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.

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

Location

MeSH Terms

Conditions

Propionic Acidemia

Condition Hierarchy (Ancestors)

Amino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Lina Ghaloul-Gonzalez, MD

    University of Pittsburgh

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Assistant Professor

Study Record Dates

First Submitted

April 12, 2017

First Posted

May 18, 2017

Study Start

April 6, 2017

Primary Completion

September 5, 2022

Study Completion

September 5, 2022

Last Updated

January 29, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will not share

Locations

US(1)