Propionic AcidemiaNCT03159026
Review of Charts From Amish/Mennonite Variant PA Patients
An observational study of Propionic Acidemia, run by University of Pittsburgh at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Propionic Acidemia
- How many people
- 38 participants
- Where
- 1 siteUnited States
- Study dates
- 6 Apr 2017to 5 Sep 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Patients homozygous for the PCCB c.606A>G mutation
Who cannot join
- Patients who are not homozygous for the PCCB c.1606A>G mutation
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
About this study
Official title: 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.
Read the 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.
- Conditions
- Propionic Acidemia
- Keywords
- Amish/Mennonite variant
- Medical subject headings
- Propionic Acidemia
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical and biochemical natural history of Amish/Mennonite PA variant
Chart review to describe clinical and biochemical features of Amish/Mennonite PA variant
Measured: Through study completion, an average of one year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2017
- Study start6 Apr 2017
- Primary completion5 Sep 2022
- Study completion5 Sep 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Propionic AcidemiaStudies of the same condition, open and under way.
- More trials run by University of PittsburghThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 38 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Pittsburgh
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Lina Ghaloul Gonzalez, University of Pittsburgh
- Investigators
- Lina Ghaloul-Gonzalez, MD, Principal investigator, University of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03159026
- Sponsor's protocol ID
- PRO16110176
- Status last verified
- Jan 2026
- First submitted
- 12 Apr 2017
- Last updated
- 29 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia
- ClinicalTrials.gov ID
- NCT03159026
- Acronym / sponsor ID
- PRO16110176
- Conditions
- Propionic Acidemia
- Keywords
- Amish/Mennonite variant
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 38 participants (actual)
- Lead sponsor
- University of PittsburghUniversity, hospital or other
- Study start
- 6 Apr 2017 (actual)
- Primary completion
- 5 Sep 2022 (actual)
- Study completion
- 5 Sep 2022 (actual)
- First posted
- 18 May 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- Patients homozygous for the PCCB c.606A>G mutation
Key exclusion criteria (1 listed)
- Patients who are not homozygous for the PCCB c.1606A>G mutation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Lina Ghaloul-Gonzalez, MD principal investigator
University of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Propionic Acidemia, run by University of Pittsburgh at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical and biochemical natural history of Amish/Mennonite PA variant (time frame: Through study completion, an average of one year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Jan 2026.