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An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics

A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations

Who can join

All ages · All sexes

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

About the study

To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.

What is being tested

• Carglumic Acid (drug)

Sponsor: RECORDATI GROUP · Participants: 20 · Started: Jun 30, 2022

Contact the study team

• Anne Marie Cesario · Phone: 908-849-4907

Official record on ClinicalTrials.gov — NCT05040178

Locations in the U.S.

Conditions

• Propionic Acidemia

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.