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

Recruiting

• Conditions: Hyperammonemia; Methylmalonic Acidemia; Propionic Acidemia
• Interventions: Drug: Carglumic Acid

• Registration Number: NCT05040178
• Lead Sponsor: Recordati Rare Diseases

Brief Summary

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

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.

Study Timeline

• Study First Submitted: 2021-06-16
• Study First Submitted QC: 2021-09-09
• Study First Posted: 2021-09-10
• Study Start: 2022-06-30
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-10
• Last Update Posted: 2025-04-15
• Primary Completion: 2032-06-30
• Study Completion: 2032-06-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 20

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Male and Female Adult and Pediatric Participants	Carglumic Acid	Patients treated with Carbaglu for the treatment for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)

Primary Outcome Measures

Name	Time	Method
Effects of Carbaglu® on plasma ammonia levels	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.
Adverse Event frequency and severity	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 Outcome Measures

Name	Time	Method
Fetal Outcomes and Pregnancy Outcomes	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).

Trial Locations

Locations (5)

Children's National Hospital; 🇺🇸 Washington, District of Columbia, United States

University of South Florida; 🇺🇸 Tampa, Florida, United States

Ann & Robert H. Lurie Children's Hospital of Chicago; 🇺🇸 Chicago, Illinois, United States

Riley Children's Hospital; 🇺🇸 Indianapolis, Indiana, United States

Icahn School of Medicine at Mt. Sinai; 🇺🇸 New York, New York, United States