Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

Medical records reveal clues to rare genetic disease in amish and mennonite populations

NCT ID NCT03159026

Knowledge-focused Sponsor: University of Pittsburgh Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked back at the medical records of 38 people who have a specific genetic form of propionic acidemia, a rare metabolic disorder. The goal was to describe how the condition progresses over time, especially heart problems, and to create a better plan for preventive care. No new treatments were tested; instead, researchers gathered information to guide future care.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

38 people

The number who actually took part.

Started

Apr 2017

Finished

Sep 2022

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

propionic acidemia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Propionic acidemia

Contacts and locations

Locations

  • Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania, 15224, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.