Clinical trial NCT05769621: A Retrospective Study to Characterize Participants With Propionic Acidemia and Methylmalonic Acidemia
Official title: A Retrospective Cohort Study to Characterize Propionic Acidemia Patients and Methylmalonic Acidemia
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Propionic Acidemia
Methylmalonic Acidemia
Lead sponsor: ModernaTX, Inc.
Sponsor class: INDUSTRY
First posted: 2023-03-15
Enrollment: 200
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Individuals of any age with confirmed diagnosis of PA or MMA.

Brief summary: This is a non-interventional, global, multicenter, retrospective cohort study describing participant characteristics, clinical outcomes, and event rates in participants with propionic acidemia (PA) or Methylmalonic acidemia (MMA).

Detailed description: This study will abstract participants data from their medical records from approximately 2015-2025. All data will be abstracted retrospectively in 6-month increments.

Eligibility criteria: Abstraction Criteria:

Participants' medical records are eligible for abstraction only if all of the following criteria apply:

* Availability of evidence supportive of the participant having received a physician's diagnosis of PA or MMA due to MUT deficiency as indicated by documented evidence.
* Participant provided informed consent (and assent, as applicable).
* Participant has had at least one MDE in 2015 or later before eligibility assessment.

Censoring Criteria:

Participants medical records meeting the following censoring criterion will not be abstracted:

* Participation in a clinical study of mRNA-3927, mRNA-3705, or another investigational agent.
* Other reasons of censorship of data include:
* Withdrawal of consent
* Death
* Lost to follow-up
* End of study period

Primary outcomes:
measure: Number of Annualized Metabolic Decompensation Events (MDEs)
timeFrame: Up to 10 years
Secondary outcomes:
measure: Annualized MDE Duration
timeFrame: Up to 10 years
measure: Number of Participants with MDE Symptoms
timeFrame: Up to 10 years
measure: Number of Participants with MDE as Assessed by a Pre-Specified Severity Rating Scale
timeFrame: Up to 10 years
measure: Number of Annualized Hospitalizations Related to PA or MMA
timeFrame: Up to 10 years
measure: Annualized Duration of Hospitalizations Related to PA or MMA
timeFrame: Up to 10 years
measure: Number of Annualized Urgent Healthcare Visits Related to PA or MMA
timeFrame: Up to 10 years
measure: Number of Participants who Received Medication During and Within ± 3 Days of an MDE
timeFrame: Up to 10 years
measure: Number of Participants Requiring Dietary Management
timeFrame: Up to 10 years
measure: Change from Baseline in Biomarkers
timeFrame: Up to 10 years
Other outcomes:
Locations:
city: Stanford
country: United States
facility: University of Stanford Medical Center
state: California
city: Lutherville
country: United States
facility: Johns Hopkins University
state: Maryland
city: Ann Arbor
country: United States
facility: University of Michigan Hospital
state: Michigan
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Houston
country: United States
facility: Texas Children's Hospital
state: Texas
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Melbourne
country: Australia
facility: Royal Children's Hospital Melbourne
state: Victoria
city: Edmonton
country: Canada
facility: Stollery Children's Hospital University of Alberta
state: Alberta
city: Vandœuvre-lès-Nancy
country: France
facility: CHRU Nancy Hôpital des Enfants
state: Meurthe-et-Moselle
city: Paris Cedex 15
country: France
facility: Hôpital Necker - Enfants Malades
state: Paris
city: Marseille
country: France
facility: CHU de Marseille - Hôpital de la Timone
city: Toulouse
country: France
facility: CHU Toulouse
city: Roma
country: Italy
facility: Azienda Ospedale Pediatrico Bambino Gesu - INCIPIT - PIN
state: Lazio
city: Monza
country: Italy
facility: ASST di Monza - Azienda Ospedaliera San Gerardo
state: Monza A Brianza
city: Firenze
country: Italy
facility: Azienda Ospedaliero Universitaria A Meyer - INCIPIT - PIN
state: Toscana
city: Rotterdam
country: Netherlands
facility: Erasmus MC
city: Santander
country: Spain
facility: Hospital Universitario Marques de Valdecilla
state: Cantabria
city: Barakaldo
country: Spain
facility: Hospital Universitario Cruces
city: Barcelona
country: Spain
facility: Hospital Sant Joan de Deu
city: Madrid
country: Spain
facility: Hospital Universitario Raymon y Cajal
city: Madrid
country: Spain
facility: Hospital Universitario 12 de Octubre
city: Sevilla
country: Spain
facility: Hospital Universitario Virgen del Rocio - PPDS
city: Valencia
country: Spain
facility: Hospital Universitari I Politecnic La Fe de Valencia
city: Kirkcaldy
country: United Kingdom
facility: Victoria Hospital
state: Fife
city: Manchester
country: United Kingdom
facility: St Mary's Hospital - PPDS
state: Lancashire
city: City of London
country: United Kingdom
facility: Great Ormond Street Hospital
state: London
Study officials:
References: