Surveillance of Carbaglu for NAGS deficiency
Orphan Europe Carbaglu® Surveillance Protocol
Children's National Research Institute · NCT03409003
This study is tracking the long-term safety of Carbaglu for people with NAGS deficiency to see how well it works and if there are any side effects.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Sex | All |
| Sponsor | Children's National Research Institute (other) |
| Locations | 3 sites (Washington D.C., District of Columbia and 2 other locations) |
| Trial ID | NCT03409003 on ClinicalTrials.gov |
What this trial studies
This observational study aims to conduct post-marketing surveillance of carglumic acid (Carbaglu) to gather long-term clinical safety data for patients with N-acetylglutamate synthase (NAGS) deficiency. It will collect information on patient demographics, treatment details, adverse events, and pregnancy outcomes. The data will be submitted to the FDA annually, with a comprehensive final report due 15 years post-approval. The study will leverage existing data from the Longitudinal Study of Urea Cycle Disorders.
Who should consider this trial
Good fit: Ideal candidates include individuals with a confirmed diagnosis or suspicion of NAGS deficiency who are receiving treatment with Carbaglu.
Not a fit: Patients with hyperammonemia due to other urea cycle disorders or those with specific exclusions such as primary liver disease will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance the understanding of the long-term safety and efficacy of Carbaglu in treating NAGS deficiency.
How similar studies have performed: Other studies on post-marketing surveillance of rare disease treatments have shown success in providing valuable safety data, making this approach both relevant and necessary.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Washington D.C., District of Columbia and 2 other locations
- Children's National Medical Center — Washington D.C., District of Columbia, United States (RECRUITING)
- Children's Hospital Boston (UCDC New England Center) — Boston, Massachusetts, United States (RECRUITING)
- Icahn School of Medicine at Mount Sinai — New York, New York, United States (RECRUITING)
Study contacts
- Principal investigator: Nicholas Ah Mew, MD — Children's National Research Institute
- Study coordinator: Jennifer Seminara, MPH
- Email: jseminar@childrensnational.org
- Phone: 2023066489
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: N-acetylglutamate Synthase Deficiency, urea cycle disorder