RecruitingNCT05040178

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

A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations


Sponsor

RECORDATI GROUP

Enrollment

20 participants

Start Date

Jun 30, 2022

Study Type

OBSERVATIONAL

Conditions

Summary

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


Eligibility

Inclusion Criteria7

  • 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

Exclusion Criteria1

  • None

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Interventions

DRUGCarglumic Acid

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


Locations(5)

Children's National Hospital

Washington D.C., 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

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NCT05040178


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