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NCT Number: NCT05040178

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

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

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Key information

Conditions

Hyperammonemia Amino Acid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Methylmalonic Acidemia Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Propionic Acidemia

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's National Hospital, Washington D.C., District of Columbia, United States

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Provision of signed and dated informed consent/assent form
  • Prescribed and treated with Carbaglu®
  • 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

Treatment and study plan

Carglumic Acid

Drug

Current or previous treatment with Carbaglu, the dose of Carbaglu® prescribed will be determined by the investigator for each individual patient.

Other names: Carbaglu®

Primary outcomes

  1. Effects of Carbaglu® on plasma ammonia levels

    Time frame: Patients treated with Carbaglu® will be managed chronically (out-patient) or acutely (hospital in-patient). In both cases, data will be collected for approximately 1 year following discontinuation of Carbaglu treatment.

    Multiple plasma ammonia levels will be collected only during treatment with Carbaglu® according to prescribing information and routine medical practice in terms of visit frequency.

  2. Adverse Event frequency and severity

    Time frame: Patients treated with Carbaglu® will be managed chronically (out-patient) or acutely (hospital in-patient). In both cases, data will be collected for approximately 1 year following discontinuation of Carbaglu treatment.

    Any Carbaglu® related adverse events will be be collected and reported

Secondary outcomes

  1. Fetal Outcomes and Pregnancy Outcomes

    Time frame: Collection of pregnancy information for patients who becomes pregnant while participating in the trial or at time of enrollment. Pregnancy reports and reports involving neonates and infants up to 1 year of age must be reported to RRD Pharmacovigilance.

    Pregnancy risks including maternal complications, adverse effects on the developing fetus and neonate, and adverse effects on the infant (through the first year of life).

Study contacts

Contact information is provided by the study sponsor or research team.

Anne Marie Cesario

CONTACT

[email protected]

908-849-4907

Sponsors and collaborators

Lead sponsor

RECORDATI GROUP

Industry

Collaborators

  • Target PharmaSolutions, Inc.

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2032
Study completion
2032
First posted
Sep 10, 2021
Registry last updated
Apr 15, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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