Orphan Europe Carbaglu® Surveillance Protocol

Description

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 Overview

Study Details

Study overview

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.

Orphan Europe Carbaglu® Surveillance Protocol

Orphan Europe Carbaglu® Surveillance Protocol

Condition
N-acetylglutamate Synthase (NAGS) Deficiency
Intervention / Treatment

-

Contacts and Locations

Washington

Children's National Medical Center, Washington, District of Columbia, United States, 20010

Boston

Children's Hospital Boston (UCDC New England Center), Boston, Massachusetts, United States, 02115

New York

Icahn School of Medicine at Mount Sinai, New York, New York, United States, 10029

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)
  • * 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.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Nicholas Ah Mew,

Nicholas Ah Mew, MD, PRINCIPAL_INVESTIGATOR, Children's National Health System

Study Record Dates

2027-01