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Completed

NCT Number: NCT04284917

Long-term Efficacy of Carglumic Acid in Organic Acidemia.

Evaluate the Long Term Effectiveness & Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).

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Key information

Conditions

Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA) 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 Propionic Acidemia

Age range

0 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

National Taiwan University Hospital

Taipei, 10041, Taiwan

About this study

Study procedures:

A. Study period: 36 months; treatment period: 12 months.

B. Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12).

C. Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12.

D. Patients should report any adverse event that occur during treatment period.

E. Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

  • PA or MMA confirmed using the following criteria:
  • PA confirmed by the measurement of acylcarnitine profile, urine organic acid, measurement of propionyl Co-A carboxylase in leukocytes or cultured fibroblasts or by DNA molecular testing of PCCA (Propionyl CoA Carboxylase, Alpha Polypeptide) or PCCB (propionyl CoA carboxylase, beta polypeptide) gene
  • MMA confirmed by the measurement of acylcarnitine profile, urine organic acid, measurement of methymalonyl Co-A mutase in culture fibroblasts or DNA molecular testing of mutgene.
  • Male or female Children of 18 years old or less.
  • Had experienced Hyperammonemia(NH3 ≧100 uM) before.
  • Not participating in any other clinical trial in the previous 30 days

Exclusion criteria

  • Patients with other organic acidemia or any other cause of hyperammonemia
  • Patient receiving other investigational therapy for PA or MMA
  • Patient with PA or MMA and other inherited genetic conditions or congenital anomalies
  • Past history of hypersensitivity or drug allergy to Carbaglu®

Treatment and study plan

Carglumic Acid (Carbaglu®)

Drug

A. Study period: 36 months; treatment period: 12 months.

B. Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12).

C. Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12.

D. Patients should report any adverse event that occur during treatment period.

E. Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period.

Primary outcomes

  1. Number of emergency visits due to hyperammonemia within 12 months period

    Time frame: 12 months

    Adverse Events

Secondary outcomes

  1. Time to first visit to the ER due to hyperammonemia from starting the treatment

    Time frame: 12 months

    Adverse Events

  2. Assessment of Plasma ammonia level

    Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.

    Plasma ammonia level over the study treatment period.

  3. Number of days of hospitalization

    Time frame: 12 months

    Number of days of hospitalization during study treatment period.

  4. Assessment of Acylcarnitine level

    Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.

    Acylcarnitine level for all patients

  5. Assessment of urine organic acid level

    Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.

    Measuring urine organic acid level for both diseases.

  6. Assessment of Plasma aminoacids' level

    Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.

    Measuring Plasma aminoacids' level for both diseases.

  7. Assessment of Methylmalonic acid level

    Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.

    Measuring Methylmalonic acid level for both diseases.

Sponsors and collaborators

Lead sponsor

National Taiwan University Hospital

Other

Registry information

Official study title

Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).

Important dates

Study start
2019
Primary completion
2024
Study completion
2025
First posted
Feb 26, 2020
Registry last updated
Mar 20, 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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