Propionic Acidemia Clinical Trial
Official title:
Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia
NCT number | NCT03159026 |
Other study ID # | PRO16110176 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | April 6, 2017 |
Est. completion date | September 5, 2022 |
Verified date | April 2024 |
Source | University of Pittsburgh |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 38 |
Est. completion date | September 5, 2022 |
Est. primary completion date | September 5, 2022 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
United States | Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
University of Pittsburgh |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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. |
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