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Characterizing people with propionic acidemia using past medical records

A Retrospective Cohort Study to Characterize Propionic Acidemia Patients

Observational ModernaTX, Inc. · NCT05769621

This project collects and reviews medical records to see what health events and outcomes people with propionic acidemia experience.

Quick facts

Study typeObservational
Enrollment60 (estimated)
Ages2 Years and up
SexAll
SponsorModernaTX, Inc. Industry-sponsored
Locations29 sites (Stanford, California and 28 other locations)
Trial IDNCT05769621 on ClinicalTrials.gov

What this trial studies

This is a non-interventional, retrospective, multicenter effort that abstracts clinical data from medical records to describe participant characteristics, clinical outcomes, and event rates in propionic acidemia. Only records from people with molecular confirmation of PCCA or PCCB mutations and sufficient documentation of metabolic decompensation events are included, with data captured back to birth or January 1, 2015, as available. Clinical events are documented to support CEC adjudication and to quantify metabolic decompensation event (MDE) rates and other outcomes. Data are drawn from participating medical clinics, hospitals, and academic medical centers, including several US tertiary centers.

Who should consider this trial

Good fit: Ideal candidates have a confirmed genetic diagnosis (PCCA or PCCB mutations), have provided consent/assent, and have sufficient medical records documenting the required metabolic decompensation history.

Not a fit: Patients without molecular confirmation, without records dating back to birth or 01 January 2015 (or sufficient additional documentation), or without the specified history of metabolic decompensation are unlikely to be included and may not benefit directly.

Why it matters

Potential benefit: If successful, the study could clarify the typical disease course and event rates in propionic acidemia to help clinicians plan care and inform future therapy development.

How similar studies have performed: Retrospective natural-history studies in propionic acidemia and related organic acidemias have previously provided useful clinical insights, so this approach is established though disease-specific data remain limited.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria:

Participants' medical records are eligible for abstraction only if all of the following criteria apply:

* Confirmed diagnosis of PA based on diagnosis by molecular genetic testing (propionyl-CoA carboxylase subunitα\[PCCA\] and/or propionyl-CoA carboxylase subunitβ\[PCCB\] mutations).
* Participant provided informed consent (and assent, as applicable).
* Medical records with sufficient data to support medical encounter for CEC adjudication (MEA adjudication) must be available dating back to birth or 01 January 2015, whichever occurs later. Participants born prior to 2015 will require additional information to confirm eligibility.
* Experienced at least one MDE in the 24 months preceding the Index Date or experienced at least 3 MDEs within any one 12-month retrospective review period (based on Index Date) dating back to birth or 01 January 2015, whichever occurs later.
* Must have a confirmed age (months) of disease onset (early or late, where early is defined as the neonatal period).
* Participants who meet any of the censoring criteria listed below may be enrolled into the study if they have a minimum of 2 years of data available for abstraction prior to meeting the censoring criteria and they meet all inclusion criteria based on the data available for abstraction.

Censoring Criteria:

Participants medical records meeting the following censoring criterion will not be abstracted:

* Participation in a clinical study of any investigational agent.
* Received gene therapy treatment
* Confirmed organ transplantation
* Investigator is no longer able to obtain relevant clinical information of the participant.
* Death

Exclusion Criteria:

Participant's medical records will not be eligible for abstraction if the participant meets the following exclusion criteria:

\- Participation (prior or ongoing) in clinical study mRNA-3927-P101 (NCT04159103) or mRNA-3927-P101-EXT (NCT05130437).

Where this trial is running

Stanford, California and 28 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Propionic Acidemia
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.