A Retrospective Study to Characterize Participants With Propionic Acidemia

February 3, 2026 updated by: ModernaTX, Inc.

A Retrospective Cohort Study to Characterize Propionic Acidemia Patients

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

Study Overview

Status

Recruiting

Conditions

Detailed Description

Data will be abstracted through medical record review ensuring inclusion only of data from participants meeting all the inclusion criteria and none of the censoring criteria. Data will be collected retrospectively from study sites, including medical clinics, hospitals and academic medical centers.

Study Type

Observational

Enrollment (Estimated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Australia
    • Victoria
      • Parkville, Victoria, Australia, 3052
        • Withdrawn
        • Royal Children's Hospital Melbourne
  • Canada
    • Alberta
      • Edmonton, Alberta, Canada, T6G 2B7
        • Withdrawn
        • Stollery Children's Hospital University of Alberta
  • France
      • Marseille, France, 13386
        • Recruiting
        • CHU de Marseille - Hôpital de la Timone
    • Haute-Garonne
      • Toulouse, Haute-Garonne, France, 31300
        • Recruiting
        • CHU Toulouse
    • Meurthe-et-Moselle
      • Vandœuvre-lès-Nancy, Meurthe-et-Moselle, France, 54511
        • Withdrawn
        • CHRU Nancy Hôpital des Enfants
    • Paris
      • Paris, Paris, France, 75743
        • Recruiting
        • Hopital Necker - Enfants Malades
  • Italy
    • Campania
      • Napoli, Campania, Italy, 80131
        • Recruiting
        • Azienda Ospedaliera Universitaria Federico II
    • Monza A Brianza
      • Monza, Monza A Brianza, Italy, 20900
        • Active, not recruiting
        • ASST di Monza - Azienda Ospedaliera San Gerardo
    • Tuscany
      • Florence, Tuscany, Italy, 50139
        • Recruiting
        • Azienda Ospedaliero Universitaria A Meyer - INCIPIT - PIN
  • Japan
    • Aichi-ken
      • Toyoake, Aichi-ken, Japan, 470-1192
        • Not yet recruiting
        • Fujita Health University Hospital
    • Tokyo
      • Minato, Tokyo, Japan, 105-8471
        • Not yet recruiting
        • The Jikei University School of Medicine
  • Netherlands
    • South Holland
      • Rotterdam, South Holland, Netherlands, 3015 GD
        • Not yet recruiting
        • Erasmus MC
  • Spain
      • Barakaldo, Spain, 48903
        • Recruiting
        • Hospital Universitario Cruces
      • Madrid, Spain, 28041
        • Active, not recruiting
        • Hospital Universitario 12 de Octubre
      • Madrid, Spain, 28034
        • Recruiting
        • Hospital Universitario Raymon y Cajal
      • Seville, Spain, 41013
        • Recruiting
        • Hospital Universitario Virgen del Rocio - PPDS
      • Valencia, Spain, 46026
        • Recruiting
        • Hospital Universitari i Politecnic La Fe de Valencia
    • Barcelona
      • Esplugues de Llobregat, Barcelona, Spain, 8950
        • Recruiting
        • Hospital Sant Joan de Déu
    • Cantabria
      • Santander, Cantabria, Spain, 39008
        • Recruiting
        • Hospital Universitario Marqués de Valdecilla
  • United Kingdom
      • Birmingham, United Kingdom, B29 6JD
        • Recruiting
        • University Hospital Birmingham
    • Fife
      • Kirkcaldy, Fife, United Kingdom, KY2 5AH
        • Withdrawn
        • Victoria Hospital
    • Lancashire
      • Manchester, Lancashire, United Kingdom
        • Active, not recruiting
        • St Mary's Hospital - PPDS
    • London
      • City of London, London, United Kingdom
        • Active, not recruiting
        • Great Ormond Street Hospital
  • United States
    • California
      • Stanford, California, United States, 94305-2200
        • Not yet recruiting
        • University of Stanford Medical Center
    • Maryland
      • Baltimore, Maryland, United States, 21287-0010
        • Recruiting
        • Johns Hopkins University
    • Michigan
      • Ann Arbor, Michigan, United States, 48109-5000
        • Active, not recruiting
        • University of Michigan Hospital
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Children's Hospital of Philadelphia
    • Texas
      • Houston, Texas, United States, 77030-2614
        • Terminated
        • Texas Children's Hospital
    • Washington
      • Seattle, Washington, United States, 98105-3901
        • Recruiting
        • Seattle Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Individuals of a minimum age of 2 years with confirmed diagnosis of PA.

Description

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).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
PA Participants
Participants with PA who meet all eligibility criteria for medical record abstraction.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of Annualized Clinical Event Committee (CEC)-adjudicated Metabolic Decompensation Events (MDEs)
Time Frame: Up to 10 years
Up to 10 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Number of CEC-adjudicated MDEs as Assessed by a Pre-Specified Severity Rating Scale
Time Frame: Up to 10 years
Up to 10 years
Number of Annualized CEC-adjudicated PA-related Hospitalizations
Time Frame: Up to 10 years
Up to 10 years
Number of Annualized CEC-adjudicated MDE-related Hospitalizations
Time Frame: Up to 10 years
Up to 10 years
Number of Annualized CEC-adjudicated PA-related Urgent Healthcare Visits
Time Frame: Up to 10 years
Up to 10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

ModernaTX, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 16, 2023

Primary Completion (Estimated)

September 30, 2026

Study Completion (Estimated)

September 30, 2026

Study Registration Dates

First Submitted

March 3, 2023

First Submitted That Met QC Criteria

March 3, 2023

First Posted (Actual)

March 15, 2023

Study Record Updates

Last Update Posted (Actual)

February 5, 2026

Last Update Submitted That Met QC Criteria

February 3, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • mRNA-3927-P002

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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