A Retrospective Study to Characterize Participants With Propionic Acidemia
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Propionic Acidemia. Basic parameters: from 2 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Australia, Canada, France, Italy +4
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Retrospective Cohort Study to Characterize Propionic Acidemia Patients
Overview
This is a non-interventional, observational, global, multicenter, study describing participant characteristics, clinical outcomes, and event rates in participants with propionic acidemia (PA).
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.
Primary outcome measures
- Number of Annualized Clinical Event Committee (CEC)-adjudicated Metabolic Decompensation Events (MDEs) [Time frame: Up to 10 years]
Secondary outcome measures (4)
- Number of CEC-adjudicated MDEs as Assessed by a Pre-Specified Severity Rating Scale [Time frame: Up to 10 years]
- Number of Annualized CEC-adjudicated PA-related Hospitalizations [Time frame: Up to 10 years]
- Number of Annualized CEC-adjudicated MDE-related Hospitalizations [Time frame: Up to 10 years]
- Number of Annualized CEC-adjudicated PA-related Urgent Healthcare Visits [Time frame: Up to 10 years]
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).
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Spain · 7 centers
- Hospital Sant Joan de Deu — Esplugues de Llobregat
- Hospital Universitario Marques de Valdecilla — Santander
- Hospital Universitario Cruces — Barakaldo
- Hospital Universitario Raymon y Cajal — Madrid
- Hospital Universitario 12 de Octubre — Madrid
- Hospital Universitario Virgen del Rocio - PPDS — Seville
- Hospital Universitari I Politecnic La Fe de Valencia — Valencia
United States · 6 centers
- University of Stanford Medical Center — Stanford
- Johns Hopkins University — Baltimore
- University of Michigan Hospital — Ann Arbor
- Children's Hospital of Philadelphia — Philadelphia
- Texas Children's Hospital — Houston
- Seattle Children's Hospital — Seattle
France · 4 centers
- CHU Toulouse — Toulouse
- CHRU Nancy Hôpital des Enfants — Vandœuvre-lès-Nancy
- Hôpital Necker - Enfants Malades — Paris
- CHU de Marseille - Hôpital de la Timone — Marseille
United Kingdom · 4 centers
- Victoria Hospital — Kirkcaldy
- St Mary's Hospital - PPDS — Manchester
- Great Ormond Street Hospital — City of London
- University Hospital Birmingham — Birmingham
Italy · 3 centers
- Azienda Ospedaliera Universitaria Federico II — Naples
- ASST di Monza - Azienda Ospedaliera San Gerardo — Monza
- Azienda Ospedaliero Universitaria A Meyer - INCIPIT - PIN — Florence
Japan · 2 centers
- Fujita Health University Hospital — Toyoake
- The Jikei University School of Medicine — Minato
Australia · 1 center
- Royal Children's Hospital Melbourne — Parkville
Canada · 1 center
- Stollery Children's Hospital University of Alberta — Edmonton
Netherlands · 1 center
- Erasmus MC — Rotterdam
Identifiers
NCT: NCT05769621 · mRNA-3927-P002