Home › Inborn Urea Cycle Disorders › NCT03409003
Orphan Europe Carbaglu® Surveillance Protocol
Who can join
All ages · All sexes
Full eligibility criteria
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.
About the study
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.
Sponsor: Nicholas Ah Mew · Participants: 30 · Started: 2012-04
Contact the study team
- Jennifer Seminara, MPH · Phone: 2023066489
Official record on ClinicalTrials.gov — NCT03409003
Locations in the U.S.
| District of Columbia | Children's National Medical Center, Washington D.C. |
| Massachusetts | Children's Hospital Boston (UCDC New England Center), Boston |
| New York | Icahn School of Medicine at Mount Sinai, New York |
Conditions
From ClinicalTrials.gov, data retrieved Oct 1, 2026. Each study sets its own eligibility; the study team decides who can join.