A Retrospective Study to Characterize Participants With Propionic Acidemia

Официальное название

A Retrospective Cohort Study to Characterize Propionic Acidemia Patients

Обзор

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

Подробное описание

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.

Первичные конечные точки

• Number of Annualized Clinical Event Committee (CEC)-adjudicated Metabolic Decompensation Events (MDEs) [Срок оценки: Up to 10 years]

Вторичные конечные точки (4)

• Number of CEC-adjudicated MDEs as Assessed by a Pre-Specified Severity Rating Scale [Срок оценки: Up to 10 years]
• Number of Annualized CEC-adjudicated PA-related Hospitalizations [Срок оценки: Up to 10 years]
• Number of Annualized CEC-adjudicated MDE-related Hospitalizations [Срок оценки: Up to 10 years]
• Number of Annualized CEC-adjudicated PA-related Urgent Healthcare Visits [Срок оценки: Up to 10 years]

Критерии участия

Критерии включения

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

Критерии исключения

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).

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Испания · 7 центров

• 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

США · 6 центров

• 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

Франция · 4 центра

• CHU Toulouse — Toulouse
• CHRU Nancy Hôpital des Enfants — Vandœuvre-lès-Nancy
• Hôpital Necker - Enfants Malades — Paris
• CHU de Marseille - Hôpital de la Timone — Marseille

Великобритания · 4 центра

• Victoria Hospital — Kirkcaldy
• St Mary's Hospital - PPDS — Manchester
• Great Ormond Street Hospital — City of London
• University Hospital Birmingham — Birmingham

Италия · 3 центра

• Azienda Ospedaliera Universitaria Federico II — Naples
• ASST di Monza - Azienda Ospedaliera San Gerardo — Monza
• Azienda Ospedaliero Universitaria A Meyer - INCIPIT - PIN — Florence

Япония · 2 центра

• Fujita Health University Hospital — Toyoake
• The Jikei University School of Medicine — Minato

Австралия · 1 центр

• Royal Children's Hospital Melbourne — Parkville

Канада · 1 центр

• Stollery Children's Hospital University of Alberta — Edmonton

Нидерланды · 1 центр

• Erasmus MC — Rotterdam

Идентификаторы

NCT: NCT05769621 · mRNA-3927-P002

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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