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A Retrospective Study to Characterize Participants With Propionic Acidemia and Methylmalonic Acidemia

Active, not recruiting
Conditions
Methylmalonic Acidemia
Propionic Acidemia
Registration Number
NCT05769621
Lead Sponsor
ModernaTX, Inc.
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.

Recruitment & Eligibility

Status
ACTIVE_NOT_RECRUITING
Sex
All
Target Recruitment
200
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Number of Annualized Metabolic Decompensation Events (MDEs)Up to 10 years
Secondary Outcome Measures
NameTimeMethod
Number of Participants with MDE SymptomsUp to 10 years

MDE symptoms may include persistent vomiting, anorexia/failure to feed, lethargy, change in behavior or level of consciousness or increased seizure activity.

Number of Annualized Hospitalizations Related to PA or MMAUp to 10 years
Number of Annualized Urgent Healthcare Visits Related to PA or MMAUp to 10 years
Number of Participants who Received Medication During and Within ± 3 Days of an MDEUp to 10 years

Medications for standard long-term and acute management of PA or MMA, which may include, but are not limited to, anesthesia, antibiotics/antifungals, anticoagulation medications, antiepileptics, biotin or cobalamin supplementation, hydration treatment, PA treatment, MMA treatment, pain medications, and transfusion related medications.

Number of Participants Requiring Dietary ManagementUp to 10 years

Dietary management includes the following:

* Prescribed protein intake during metabolic stability and during MDEs

* Sick-day diet as available.

Annualized MDE DurationUp to 10 years
Annualized Duration of Hospitalizations Related to PA or MMAUp to 10 years
Number of Participants with MDE as Assessed by a Pre-Specified Severity Rating ScaleUp to 10 years
Change from Baseline in BiomarkersUp to 10 years

Trial Locations

Locations (26)

University of Stanford Medical Center

🇺🇸

Stanford, California, United States

Johns Hopkins University

🇺🇸

Lutherville, Maryland, United States

University of Michigan Hospital

🇺🇸

Ann Arbor, Michigan, United States

Children's Hospital of Philadelphia

🇺🇸

Philadelphia, Pennsylvania, United States

Texas Children's Hospital

🇺🇸

Houston, Texas, United States

Seattle Children's Hospital

🇺🇸

Seattle, Washington, United States

Royal Children's Hospital Melbourne

🇦🇺

Melbourne, Victoria, Australia

Stollery Children's Hospital University of Alberta

🇨🇦

Edmonton, Alberta, Canada

CHRU Nancy Hôpital des Enfants

🇫🇷

Vandœuvre-lès-Nancy, Meurthe-et-Moselle, France

Hôpital Necker - Enfants Malades

🇫🇷

Paris Cedex 15, Paris, France

CHU de Marseille - Hôpital de la Timone

🇫🇷

Marseille, France

CHU Toulouse

🇫🇷

Toulouse, France

Azienda Ospedale Pediatrico Bambino Gesu - INCIPIT - PIN

🇮🇹

Roma, Lazio, Italy

ASST di Monza - Azienda Ospedaliera San Gerardo

🇮🇹

Monza, Monza A Brianza, Italy

Azienda Ospedaliero Universitaria A Meyer - INCIPIT - PIN

🇮🇹

Firenze, Toscana, Italy

Erasmus MC

🇳🇱

Rotterdam, Netherlands

Hospital Universitario Marques de Valdecilla

🇪🇸

Santander, Cantabria, Spain

Hospital Universitario Cruces

🇪🇸

Barakaldo, Spain

Hospital Sant Joan de Deu

🇪🇸

Barcelona, Spain

Hospital Universitario Raymon y Cajal

🇪🇸

Madrid, Spain

Hospital Universitario 12 de Octubre

🇪🇸

Madrid, Spain

Hospital Universitario Virgen del Rocio - PPDS

🇪🇸

Sevilla, Spain

Hospital Universitari I Politecnic La Fe de Valencia

🇪🇸

Valencia, Spain

Victoria Hospital

🇬🇧

Kirkcaldy, Fife, United Kingdom

St Mary's Hospital - PPDS

🇬🇧

Manchester, Lancashire, United Kingdom

Great Ormond Street Hospital

🇬🇧

City of London, London, United Kingdom

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