NCT03409003

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
30

participants targeted

Target at below P25 for all trials

Timeline
8mo left

Started Apr 2012

Longer than P75 for all trials

Geographic Reach
1 country

3 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress96%
Apr 2012Jan 2027

Study Start

First participant enrolled

April 1, 2012

Completed
4.6 years until next milestone

First Submitted

Initial submission to the registry

November 18, 2016

Completed
1.2 years until next milestone

First Posted

Study publicly available on registry

January 24, 2018

Completed
8.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2026

Expected
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2027

Last Updated

February 7, 2024

Status Verified

February 1, 2024

Enrollment Period

14.3 years

First QC Date

November 18, 2016

Last Update Submit

February 6, 2024

Conditions

Keywords

urea cycle disorder

Outcome Measures

Primary Outcomes (1)

  • Carbaglu related adverse events and adverse reactions

    The primary outcome measure is to monitor adverse events and adverse reactions, which will be reported to the FDA to fulfill post-marketing surveillance requirements.

    15 years

Secondary Outcomes (5)

  • Number of hyperammonemic events

    15 years

  • IQ

    15 years

  • Height

    15 years

  • Weight

    15 years

  • Abnormal physical and neurological findings

    15 years

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Confirmed diagnosis of NAGS deficiency or suspicion of NAGS deficiency, taking Carbaglu for the treatment of NAGS, and enrolled in the Longitudinal Study of Urea Cycle Disorders (RDCRN protocol #5101)

You may qualify if:

  • 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)

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

RECRUITING

Children's Hospital Boston (UCDC New England Center)

Boston, Massachusetts, 02115, United States

RECRUITING

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

RECRUITING

Related Links

MeSH Terms

Conditions

Urea Cycle Disorders, Inborn

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Nicholas Ah Mew, MD

    Children's National Research Institute

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Jennifer Seminara, MPH

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
15 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

November 18, 2016

First Posted

January 24, 2018

Study Start

April 1, 2012

Primary Completion (Estimated)

July 1, 2026

Study Completion (Estimated)

January 1, 2027

Last Updated

February 7, 2024

Record last verified: 2024-02

Data Sharing

IPD Sharing
Will not share

This is a post-marketing surveillance study being performed so that Orphan Europe (OE) can meet its post FDA approval reporting obligations. Data will be shared with OE who will then report to the FDA. There are no other plans to make this data available to other researchers.

Locations