Status:
RECRUITING
Orphan Europe Carbaglu® Surveillance Protocol
Lead Sponsor:
Nicholas Ah Mew
Collaborating Sponsors:
Boston Children's Hospital
Icahn School of Medicine at Mount Sinai
Conditions:
N-acetylglutamate Synthase (NAGS) Deficiency
Eligibility:
All Genders
Brief 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 ...
Detailed 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)...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
April 1 2012
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2027
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT03409003
Start Date
April 1 2012
End Date
January 1 2027
Last Update
February 7 2024
Active Locations (3)
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1
Children's National Medical Center
Washington D.C., District of Columbia, United States, 20010
2
Children's Hospital Boston (UCDC New England Center)
Boston, Massachusetts, United States, 02115
3
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029