Orphan Europe Carbaglu® Surveillance Protocol
Nicholas Ah Mew
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.
Description
Among the urea cycle disorders, N-acetylglutamate synthase (NAGS) deficiency is the rarest type. In 2010, carglumic acid (Carabglu) was approved by the United States Food and Drug Administration (FDA) "as an adjunctive therapy for the treatment of acute hyperammonemia due to the deficiency of the hepatic enzyme NAGS, and as maintenance therapy for chronic hyperammonemia due to NAGS deficiency." As post-marketing requirements, the US FDA requests that Orphan Europe (OE) conduct: 1604-2: A registry of patients, with NAGS deficiency being treated with carglumic acid to obtain long-term clinical…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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.
Locations (3)
- Children's National Medical CenterWashington D.C., District of Columbia
- Children's Hospital Boston (UCDC New England Center)Boston, Massachusetts
- Icahn School of Medicine at Mount SinaiNew York, New York