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A Retrospective Study to Characterize Participants With Propionic Acidemia

RecruitingObservational study

A Retrospective Cohort Study to Characterize Propionic Acidemia Patients

Who can join

Ages 2 and older · All sexes

Full eligibility 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).

About the study

This is a non-interventional, observational, global, multicenter, study describing participant characteristics, clinical outcomes, and event rates in participants with propionic acidemia (PA).

Sponsor: ModernaTX, Inc. · Participants: 60 · Started: Jun 16, 2023

Contact the study team

Official record on ClinicalTrials.gov — NCT05769621

Locations in the U.S.

CaliforniaUniversity of Stanford Medical Center, Stanford (Not yet recruiting)
MarylandJohns Hopkins University, Baltimore
PennsylvaniaChildren's Hospital of Philadelphia, Philadelphia
WashingtonSeattle Children's Hospital, Seattle

Conditions

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.