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

NCT ID: NCT05040178

Last Updated: 2025-04-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-06-30

Study Completion Date

2032-06-30

Brief Summary

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

Detailed Description

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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.

Conditions

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Hyperammonemia Methylmalonic Acidemia Propionic Acidemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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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)

Carglumic Acid

Intervention Type DRUG

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

Interventions

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Carglumic Acid

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

Intervention Type DRUG

Other Intervention Names

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Carbaglu®

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Target PharmaSolutions, Inc.

INDUSTRY

Sponsor Role collaborator

Recordati Rare Diseases

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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William Ludlum, MD

Role: STUDY_DIRECTOR

Recordati Rare Diseases Inc.

Nicholas Ah Mew, MD

Role: PRINCIPAL_INVESTIGATOR

Children's National Research Institute

Locations

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Children's National Hospital

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

Site Status RECRUITING

University of South Florida

Tampa, Florida, United States

Site Status RECRUITING

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

Chicago, Illinois, United States

Site Status RECRUITING

Riley Children's Hospital

Indianapolis, Indiana, United States

Site Status RECRUITING

Icahn School of Medicine at Mt. Sinai

New York, New York, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Anne Marie Cesario

Role: CONTACT

908-849-4907

Facility Contacts

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Kara Simpson

Role: primary

(202) 545-2503

Farideh Oberheu

Role: primary

(813) 250-2292

Michael Sawin

Role: primary

(312) 227-2816

Susan Romie

Role: primary

(317) 278-6650

Colleen Donnelly

Role: primary

(212) 241-5983

Other Identifiers

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CARBAGLU-RRDUS-PASS-0573

Identifier Type: -

Identifier Source: org_study_id

NCT05842837

Identifier Type: -

Identifier Source: nct_alias

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