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

NCT05040178 | Recruiting FDA Drug

• 1 other identifier: CARBAGLU-RRDUS-PASS-0573
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 5

Brief Summary

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

Keywords

PA & MMA

Outcome Measures

Primary Outcomes (2)

• Effects of Carbaglu® on plasma ammonia levels

  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.

  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.

• Adverse Event frequency and severity

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

  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.

Secondary Outcomes (1)

• 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.

Study Arms (1)

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

Interventions

Carglumic Acid DRUG

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

Also known as: Carbaglu®

Male and Female Adult and Pediatric Participants

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with PA or MMA of any age and gender, including pregnant women, are eligible for enrollment in the study as long as they meet the eligibility criteria.

You may qualify if:

• 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

You may not qualify if:

• None

Sponsors & Collaborators

• RECORDATI GROUP: lead
• Target PharmaSolutions, Inc.: collaborator

Study Sites (5)

Children's National Hospital

Washington D.C., District of Columbia, 20010, United States

RECRUITING

University of South Florida

Tampa, Florida, 33606, United States

RECRUITING

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

Chicago, Illinois, 60611, United States

RECRUITING

Riley Children's Hospital

Indianapolis, Indiana, 46202, United States

RECRUITING

Icahn School of Medicine at Mt. Sinai

New York, New York, 10029, United States

RECRUITING

MeSH Terms

Conditions

Hyperammonemia; Methylmalonic acidemia; Propionic Acidemia

Interventions

carglumic acid

Condition Hierarchy (Ancestors)

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

Study Officials

• William Ludlum, MD

  Recordati Rare Diseases Inc

  STUDY DIRECTOR

• Nicholas Ah Mew, MD

  Children's National Research Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anne Marie Cesario

CONTACT

908-849-4907; cesario.a@recordati.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 16, 2021
• First Posted: September 10, 2021
• Study Start: June 30, 2022
• Primary Completion (Estimated): June 30, 2032
• Study Completion (Estimated): June 30, 2032
• Last Updated: April 15, 2025

Record last verified: 2025-04

Locations

US (5)