Surveillance of Carbaglu for NAGS deficiency
Official title: Orphan Europe Carbaglu® Surveillance Protocol
Run by Children's National Research Institute · NCT03409003 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 30 (estimated) |
| Sponsor | Children's National Research Institute Academic / other |
| Locations | 3 sites (Washington D.C., District of Columbia and 2 other locations) |
| Status | Recruiting |
| Started | April 2012 |
| Main results expected | July 2026 |
| Study ends | January 2027 |
| Registry record updated | February 7, 2024 |
| Trial ID | NCT03409003 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with a confirmed diagnosis or suspicion of NAGS deficiency who are receiving treatment with Carbaglu.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Botox to improve scar after cleft lip repair
This study tests whether a Botox injection given during cleft lip repair in infants can lead to better-looking scars in the first year after surgery.
-
Ultra-Rapid Drug Screening Guide for Relapsed Rare Brain Tumors
This study tests a real-time, tissue-informed drug screening approach to guide personalized treatment for children and young adults with relapsed ultra-rare brain tumors.
-
AI care summaries to help caregivers understand their child’s hospitalization
This trial tests whether an AI-generated plain-language summary of inpatient notes helps caregivers of hospitalized children understand their child’s care better.
-
Blood-brain barrier opening with focused ultrasound plus T-cell therapy for young DMG patients
This phase 1 study tests whether opening the blood-brain barrier with focused ultrasound and microbubbles can be safely combined with infusion of tumor-targeted T cells in children and young adults with newly diagnosed diffuse midline glioma.
-
Pupillary Dilation Reflex in Healthy Adults
A single-site, non-interventional study will see how healthy adults’ pupils dilate when exposed to different levels of neurostimulation using the AlgometRx device.
-
Neuro-navigation-guided focused ultrasound with nivolumab for relapsed or progressive high-grade brain tumors in children
This study tests whether using focused ultrasound to open the blood-brain barrier and give nivolumab is safe and feasible for kids with relapsed or progressive DMG/DIPG or other high-grade brain tumors.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.