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

Purpose

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

Conditions

  • Hyperammonemia
  • Methylmalonic Acidemia
  • Propionic Acidemia

Eligibility

Eligible Ages
All ages
Eligible Genders
All
Accepts Healthy Volunteers
No

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

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Other

Arm Groups

ArmDescriptionAssigned Intervention
Male and Female Adult and Pediatric Participants Patients treated with Carbaglu for the treatment for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)
  • Drug: Carglumic Acid
    Current or previous treatment with Carbaglu, the dose of Carbaglu® prescribed will be determined by the investigator for each individual patient.
    Other names:
    • Carbaglu®

Recruiting Locations

Children's National and nearby locations

Children's National Hospital
Washington, District of Columbia 20010
Contact:
Kara Simpson
202-545-2503
ksimpson@childrensnational.org

More Details

NCT ID
NCT05040178
Status
Recruiting
Sponsor
Recordati Rare Diseases

Study Contact

Anne Marie Cesario
908-849-4907
cesario.a@recordati.com

Detailed 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.