Medical records reveal clues to rare genetic disease
NCT ID NCT03159026
First seen Jan 29, 2026 · Last updated May 16, 2026 · Updated 12 times
Summary
This study looked back at the medical records of 38 people with a specific genetic form of propionic acidemia, a rare metabolic disorder. The goal was to understand how the disease progresses over time, especially heart problems, and to create better guidelines for preventive care. No new treatments were tested; instead, researchers gathered information to help doctors manage the condition more effectively.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for PROPIONIC ACIDEMIA are added.
By submitting, you agree to our Terms of use
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Locations
-
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224, United States
Conditions
Explore the condition pages connected to this study.