Recruiting

Carbaglu

Sponsor:

Nicholas Ah Mew

Code:

NCT03409003

Conditions

N-acetylglutamate Synthase (NAGS) Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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 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.

Conditions

N-acetylglutamate Synthase (NAGS) Deficiency

Study ID

NCT03409003

Start date

Apr, 2012

Status verified date

Feb, 2024

Completion date

Jan, 2027

Anticipated

Primary completion date

Jul, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

30 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Carbaglu related adverse events and adverse reactions [ Time Frame: 15 years ]

Central Contacts and Locations

Central contacts

Jennifer Seminara, MPH

2023066489jseminar@childrensnational.org

Locations

Children's National Medical Center

Recruiting

Washington, District of Columbia, United States, 20010

Contacts

Kara Simpson, MS, CGC

202-476-6216ksimpson@childrensnational.org

Principal Investigator:

Nicholas Ah Mew, MD

Children's Hospital Boston (UCDC New England Center)

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Debbie Fu

617-919-7631yu-ting.fu@childrens.harvard.edu

Principal Investigator:

Gerry Berry, MD

Icahn School of Medicine at Mount Sinai

Recruiting

New York, New York, United States, 10029

Contacts

Alison Horn

212-659-8540alison.tiao@mssm.edu

Principal Investigator:

Margo Breilyn, MD

More Information

Sponsor

Nicholas Ah Mew

Last update posted

Feb 7, 2024

Last verified

Feb, 2024

Keywords

  • urea cycle disorder

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Nicholas Ah Mew on 2024-02-07.