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NCT Number: NCT05769621

A Retrospective Study to Characterize Participants With Propionic Acidemia

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

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Key information

Conditions

Propionic Acidemia Amino Acid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Royal Children's Hospital Melbourne, Parkville, Victoria, Australia

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

Primary outcomes

  1. Number of Annualized Clinical Event Committee (CEC)-adjudicated Metabolic Decompensation Events (MDEs)

    Time frame: Up to 10 years

Secondary outcomes

  1. Number of CEC-adjudicated MDEs as Assessed by a Pre-Specified Severity Rating Scale

    Time frame: Up to 10 years

  2. Number of Annualized CEC-adjudicated PA-related Hospitalizations

    Time frame: Up to 10 years

  3. Number of Annualized CEC-adjudicated MDE-related Hospitalizations

    Time frame: Up to 10 years

  4. Number of Annualized CEC-adjudicated PA-related Urgent Healthcare Visits

    Time frame: Up to 10 years

Study contacts

Contact information is provided by the study sponsor or research team.

Moderna WeCare Team

CONTACT

[email protected]

+1-866-663-3762

Sponsors and collaborators

Lead sponsor

ModernaTX, Inc.

Industry

Registry information

Official study title

A Retrospective Cohort Study to Characterize Propionic Acidemia Patients

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Mar 15, 2023
Registry last updated
Feb 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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