Characterizing people with propionic acidemia using past medical records

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a non-interventional, retrospective, multicenter effort that abstracts clinical data from medical records to describe participant characteristics, clinical outcomes, and event rates in propionic acidemia. Only records from people with molecular confirmation of PCCA or PCCB mutations and sufficient documentation of metabolic decompensation events are included, with data captured back to birth or January 1, 2015, as available. Clinical events are documented to support CEC adjudication and to quantify metabolic decompensation event (MDE) rates and other outcomes. Data are drawn from participating medical clinics, hospitals, and academic medical centers, including several US tertiary centers.

Why it matters

Who can join: the full rules

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).

Where it's running

• Johns Hopkins University
  Baltimore, Maryland, United States Recruiting
• Children's Hospital of Philadelphia
  Philadelphia, Pennsylvania, United States Recruiting
• Seattle Children's Hospital
  Seattle, Washington, United States Recruiting
• CHU Toulouse
  Toulouse, Haute-Garonne, France Recruiting
• Hôpital Necker - Enfants Malades
  Paris, Paris, France Recruiting
• CHU de Marseille - Hôpital de la Timone
  Marseille, France Recruiting

Study contacts

• Study coordinator: Moderna WeCare Team
• Email: WeCareClinicalTrials@modernatx.com
• Phone: +1-866-663-3762

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• AAV-based gene therapy for Propionic Acidemia in young children

  This trial tests whether an AAVrh10-PCCA gene therapy can be given safely to children with Propionic Acidemia to help their bodies manage the metabolic problem.

  Recruiting Phase 1 Mayo Clinic · Rochester, Minnesota · NCT07643844

• Long-term safety assessment of mRNA-3927 for propionic acidemia patients

  This study is testing the long-term safety and effectiveness of the mRNA-3927 treatment for people with propionic acidemia who have already participated in a previous study.

  Recruiting at 12 sites Phase 1/2 ModernaTX, Inc. · Los Angeles, California and 21 other locations · NCT05130437

• Observing the effects of Carbaglu® in treating MMA and PA in patients

  This study is testing how safe Carbaglu® is for treating high ammonia levels in people with Methylmalonic Acidemia and Propionic Acidemia, both kids and adults.

  Recruiting at 5 sites Recordati Group · Washington D.C., District of Columbia and 4 other locations · NCT05040178

• Long-term management of organic acidemia with CARBAGLU®

  This study looks at how well carglumic acid helps people with propionic acidemia and methylmalonic acidemia over a long time, while also talking to patients and caregivers about their experiences.

  Recruiting at 31 sites Recordati Group · Bordeaux and 31 other locations · NCT04176523

• Treatment for Propionic Acidemia using mRNA-3927

  This study is testing a new treatment called mRNA-3927 to see if it is safe and effective for people with propionic acidemia, including infants and older children.

  Recruiting at 19 sites Phase 1/2 ModernaTX, Inc. · Los Angeles, California and 34 other locations · NCT04159103

• Understanding Propionic Acidemia and Its Effects

  This study is trying to learn more about propionic acidemia by looking at how it affects people with the condition and their families over time.

  Recruiting at 2 sites National Institutes of Health Clinical Center (CC) · Bethesda, Maryland and 1 other locations · NCT02890342

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.