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

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 observational study aims to gather clinical safety information regarding the use of Carbaglu® in treating hyperammonemia caused by Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in both pediatric and adult patients. Participants will receive treatment as per standard medical practice, and data will be collected on various outcomes, including treatment details, plasma ammonia levels, and any adverse effects. The study will focus on both short-term and long-term safety profiles of Carbaglu® in these patient populations.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Provision of signed and dated informed consent/assent form
2. Prescribed and treated with Carbaglu®
3. Have an established diagnosis of PA or MMA defined as follows:

   * Diagnosed with PA by semi quantitative urine organic acid analysis, defined as presence of elevated methylcitric acid and normal methylmalonic acid levels and no evidence of biotin related disorders in the organic acid analysis; OR
   * Diagnosed with MMA by semi quantitative urine organic acid analysis, defined as elevation of methylmalonic acid and no evidence of vitamin B12 dependent disorder on plasma amino acid analysis (vitamin B12 dependency is defined by documented vitamin B12 responsiveness).

AND/OR

* Confirmation by molecular genetic testing

Exclusion Criteria:

* None

Where it's running

• Children's National Hospital
  Washington D.C., District of Columbia, United States Recruiting
• University of South Florida
  Tampa, Florida, United States Recruiting
• Ann & Robert H. Lurie Children's Hospital of Chicago
  Chicago, Illinois, United States Recruiting
• Riley Children's Hospital
  Indianapolis, Indiana, United States Recruiting
• Icahn School of Medicine at Mt. Sinai
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Nicholas Ah Mew, MD — Children's National Research Institute
• Study coordinator: Anne Marie Cesario
• Email: cesario.a@recordati.com
• Phone: 908-849-4907

Similar studies

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

• 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.

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• 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

• Characterizing people with propionic acidemia using past medical records

  This project collects and reviews medical records to see what health events and outcomes people with propionic acidemia experience.

  Recruiting at 15 sites ModernaTX, Inc. · Stanford, California and 28 other locations · NCT05769621

• Long-term evaluation of mRNA-3705 for treating methylmalonic acidemia

  This study is testing if a new treatment called mRNA-3705 is safe and effective for people with methylmalonic acidemia who have already tried it in previous studies.

  Recruiting at 11 sites Phase 1/2 ModernaTX, Inc. · Los Angeles, California and 11 other locations · NCT05295433

• 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

• 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

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.