Recruiting

Carbaglu®

Sponsor:

Recordati Rare Diseases

Code:

NCT05040178

Conditions

Hyperammonemia

Methylmalonic Acidemia

Propionic Acidemia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Carglumic Acid

Study Details

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

Study ID

NCT05040178

Start date

Jun 30, 2022

Status verified date

Apr, 2025

Completion date

Jun 30, 2032

Anticipated

Primary completion date

Jun 30, 2032

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Enrollment

20 participants

Anticipated

Interventions and Outcome Measures

Arms

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)

Interventions

Carglumic Acid

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

Primary outcome measure

  • 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. ]
  • 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. ]

Central Contacts and Locations

Central contacts

Anne Marie Cesario

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

Locations

Children's National Hospital

Recruiting

Washington, District of Columbia, United States, 20010

Contacts

Kara Simpson

(202) 545-2503ksimpson@childrensnational.org

Principal Investigator:

Nicholas Ah Mew, MD

University of South Florida

Recruiting

Tampa, Florida, United States, 33606

Contacts

Farideh Oberheu

(813) 250-2292faljalla@usf.edu

Principal Investigator:

Amarilis Sanchez-Valle, MD

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

Recruiting

Chicago, Illinois, United States, 60611

Contacts

Michael Sawin

(312) 227-2816Msawin@luriechildrens.org

Principal Investigator:

Joshua Baker, MD

Riley Children's Hospital

Recruiting

Indianapolis, Indiana, United States, 46202

Contacts

Susan Romie

(317) 278-6650sromie@iu.edu

Principal Investigator:

Melissa Lah, MD

Icahn School of Medicine at Mt. Sinai

Recruiting

New York, New York, United States, 10029

Contacts

Colleen Donnelly

(212) 241-5983Colleen.donnelly@mssm.edu

Principal Investigator:

Margo Breilyn, MD

More Information

Sponsor

Recordati Rare Diseases

Last update posted

Apr 15, 2025

Last verified

Apr, 2025

Keywords

  • PA & MMA

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Recordati Rare Diseases on 2025-04-15.