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

Last updated: April 10, 2025
Sponsor: Recordati Rare Diseases
Overall Status: Active - Recruiting

Phase

N/A

Condition

Urea Cycle Disorder

Hyperargininemia

Phenylketonuria

Treatment

Carglumic Acid

Clinical Study ID

NCT05040178
CARBAGLU-RRDUS-PASS-0573
  • All Genders

Study Summary

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

Eligibility Criteria

Inclusion

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 aspresence of elevated methylcitric acid and normal methylmalonic acid levels andno evidence of biotin related disorders in the organic acid analysis; OR

  • Diagnosed with MMA by semi quantitative urine organic acid analysis, defined aselevation of methylmalonic acid and no evidence of vitamin B12 dependentdisorder on plasma amino acid analysis (vitamin B12 dependency is defined bydocumented vitamin B12 responsiveness).

AND/OR

  • Confirmation by molecular genetic testing

Exclusion

Exclusion Criteria:

  • None

Study Design

Total Participants: 20
Treatment Group(s): 1
Primary Treatment: Carglumic Acid
Phase:
Study Start date:
June 30, 2022
Estimated Completion Date:
June 30, 2032

Study Description

This study is being conducted to obtain short-term and long-term clinical safety information from adult and pediatric patients treated for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). This is an observational/non-interventional study. Patients will be treated per the prescribing information and routine medical practice.

Only available data will be collected as part of the study including developmental outcomes, details of treatment with Carbaglu® and other treatments for hyperammonemia including dietary and protein management, plasma ammonia levels, pregnancy and maternal complications, adverse effects on the developing fetus and neonate, adverse effects on the infant through first year of life.

Connect with a study center

  • Children's National Hospital

    Washington, District of Columbia 20010
    United States

    Active - Recruiting

  • Children's National Medical Center

    Washington, District of Columbia 20010
    United States

    Site Not Available

  • University of South Florida

    Tampa, Florida 33606
    United States

    Active - Recruiting

  • Ann & Robert H. Lurie Children's Hospital of Chicago

    Chicago, Illinois 60611
    United States

    Active - Recruiting

  • Riley Children's Hospital

    Indianapolis, Indiana 46202
    United States

    Active - Recruiting

  • Icahn School of Medicine at Mt. Sinai

    New York, New York 10029
    United States

    Active - Recruiting

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