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Review of Charts From Amish/Mennonite Variant PA Patients

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ClinicalTrials.gov Identifier: NCT03159026
Recruitment Status : Recruiting
First Posted : May 18, 2017
Last Update Posted : May 24, 2018
Sponsor:
Information provided by (Responsible Party):
Ahmad Alhariri, MD, University of Pittsburgh

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.

Condition or disease
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
Estimated Enrollment : 150 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia
Actual Study Start Date : April 6, 2017
Estimated Primary Completion Date : April 15, 2022
Estimated Study Completion Date : April 15, 2022





Primary Outcome Measures :
  1. Clinical and biochemical natural history of Amish/Mennonite PA variant [ Time Frame: Through study completion, an average of one year. ]
    Chart review to describe clinical and biochemical features of Amish/Mennonite PA variant



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03159026


Contacts
Contact: Cate Walsh Vockley, MS, LCGC 412-692-7349 catherine.walshvockley@chp.edu
Contact: Jennifer Baker, MA 412-6926378 jennifer.baker@chp.edu

Locations
United States, Pennsylvania
Children's Hospital of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Cate Walsh Vockley, MS, LCGC    412-692-7349    Catherine.walshvockley@chp.edu   
Contact: Ahmad Alhariri, MD       ahmad.alhariri@chp.edu   
Sponsors and Collaborators
University of Pittsburgh

Responsible Party: Ahmad Alhariri, MD, Principal Investigator and Fellow in Medical Genetics, University of Pittsburgh
ClinicalTrials.gov Identifier: NCT03159026     History of Changes
Other Study ID Numbers: PRO16110176
First Posted: May 18, 2017    Key Record Dates
Last Update Posted: May 24, 2018
Last Verified: May 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Ahmad Alhariri, MD, University of Pittsburgh:
Amish/Mennonite variant

Additional relevant MeSH terms:
Acidosis
Propionic Acidemia
Acid-Base Imbalance
Metabolic Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn