Orphan Europe Carbaglu® Surveillance Protocol

ID#: NCT03409003

Age: Birth - 66+

Gender: All

Healthy Subjects: No

Recruitment Status: Recruiting

Start Date: April 01, 2012

End Date: January 01, 2027

Contact Information:
Jennifer Seminara, MPH
2023066489
Summary: The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food and Drug Administration (FDA) for treatment of acute hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency. Much of the FDA-required data is already collected through the Longitudinal Study of Urea Cycle Disorders (RDCRN Protocol #5101). This study will collect additional data on adverse events (interim events), adverse reactions, pregnancy, and fetal outcomes.
Eligibility:

Inclusion Criteria:

- Confirmed diagnosis of NAGS deficiency or suspicion of NAGS deficiency

- Carbaglu intake for the treatment of NAGS

- Enrolled in the Longitudinal Study of Urea Cycle Disorders (RDCRN protocol #5101)

Exclusion Criteria:

- Cases of hyperammonemia caused by other urea cycle disorders

- Organic acidemia, lysinuric protein intolerance

- Mitochondrial disorders

- Congenital lactic acidemia,

- Fatty acid oxidation defects

- Primary liver disease will be excluded

- Individuals with extreme low birth weight (<1,500 grams) will be also excluded.
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