Review of Charts From Amish/Mennonite Variant PA Patients
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any |
| Updated: | 12/16/2018 |
| Start Date: | April 6, 2017 |
| End Date: | April 15, 2022 |
| Contact: | Cate Walsh Vockley, MS, LCGC |
| Email: | catherine.walshvockley@chp.edu |
| Phone: | 412-692-7349 |
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.
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.
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.
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.
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
We found this trial at
1
site
3414 Fifth Avenue
Pittsburgh, Pennsylvania 15213
Pittsburgh, Pennsylvania 15213
Phone: 412-692-7349
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