5111: Orphan Europe Carbaglu® Surveillance Protocol In Collaboration with the Longitudinal Study of Urea Cycle Disorders

Status: Recruiting*

*Interested participants for this study must first be enrolled in the Longitudinal Study of Urea Cycle Disorders (RDCRN protocol #5101)

 

Background

Carbaglu® is a drug approved by the Food and Drug Administration to treat N-acetylglutamate synthase (NAGS) deficiency, a urea cycle disorder. We want to make sure that this drug is safe to take over a long period of time. To do this, we recruit participants who are currently enrolled in the Longitudinal Study of Urea Cycle Disorders, which is an ongoing observational study that collects information about the natural history of urea cycle disorders and the current standard of care for these disorders.

 

About this Study

All Carbaglu® Surveillance Protocol visits will take place at the same time as your Longitudinal Study of Urea Cycle Disorders study visits. Your diagnosis records, your demographic information, medical history review, and your family history will be collected as part of your first Longitudinal Study visit. When you enroll in the Carbaglu® Surveillance Protocol, we will also ask you detailed questions about your pregnancy history and about any adverse reactions you might have while taking Carbaglu®.

Longitudinal Study visits: At each Longitudinal Study visit, we will collect information about your medical and developmental history (since the time of your last visit), collect information about your diet, update your list of medications, conduct a physical and neurological exam, draw blood for laboratory tests, and give you a quality of life questionnaire or neuropsychological test if these tests are due (according to the Longitudinal Study schedule).

The Carbaglu® Surveillance protocol: If you are enrolled in the Carbaglu® Surveillance Protocol, in addition to the tests that are part of each Longitudinal Study visit, we will ask you for information about your experience with Carbaglu®, particularly as it relates to current and past pregnancies.

  • Pregnancies during the study: We will ask about any pregnancies that you have while you are enrolled in the study, so that we can learn about Carbaglu’s® safety during pregnancy and its effect on a fetus (developing baby).
  • Previous pregnancies: If, in the past, you became pregnant and gave birth to child while you were taking Carbaglu®, we will ask questions about your child’s development. Your child will not be enrolled in the study and we will not need any identifying information about your child other than his or her date of birth. However, if the child has NAGS and takes Carbaglu® for treatment of NAGS, we will ask you to enroll him/her in the study, too.

We will ask about any reactions you might have while taking Carbaglu®. If you are hospitalized, visit an emergency room, or have an unscheduled metabolic clinic visit, we will ask you about this as part of the Longitudinal Study. Additional information will be collected about the event for the Carbaglu® Surveillance Protocol.

 

Target Enrollment

To be eligible to participate, you must:

Be an individual with each of the following:

You are not eligible to participate if:

You have been diagnosed with any of the following:

  • hyperammonemia caused by other urea cycle disorders
  • an organic academia
  • lysinuric protein intolerance
  • mitochondrial disorders
  • congenital lactic academia
  • fatty acid oxidation defects
  • primary liver disease
  • extreme low birth weight (<1,500 grams)
 

How to participate

Interested participants for this study must first be enrolled in the Longitudinal Study of Urea Cycle Disorders (RDCRN protocol #5101)

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

  • Children’s National Medical Center
    Principal Investigator: Nicholas Ah Mew, MD
    Children's National Medical Center
    111 Michigan Avenue, NW
    Washington, DC 20010
    202-476-5863

    Site Coordinator: Kara L. Simpson, MS, CGC
    Children's National Medical Center
    111 Michigan Avenue, NW
    Washington, DC 20010
    202-476-6216
     
  • Boston Children’s Hospital
    Principal Investigator: Gerard Berry, MD
    Boston Children’s Hospital
    Harvard Medical School
    Center for Life Science Building, Suite 14070
    3 Blackfan Circle
    Boston, MA 02115
    617-355-4316

    Site Coordinator: Maya Muldowney
    Boston Children’s Hospital
    Genetics & Genomics
    1 Autumn St, Room 456
    Boston, MA 02115
    617-919-6322
     
  • The Children's Hospital Colorado
    Principal Investigator: Shawn E. McCandless, MD
    The Children’s Hospital
    University of Colorado Denver
    13123 East 16th Avenue, B153
    Aurora, CO 80045
    303-724-2338

    Co-Principal Investigator: Curtis R. Coughlin II, MS, MBe
    The Children's Hospital Colorado
    University of Colorado Denver
    13123 East 16th Avenue, B153
    Aurora, CO 80045
    303-724-2310

    Site Coordinator: Brittany Murphy, PhD, CCRC
    The Children’s Hospital
    University of Colorado Denver
    13123 East 16th Avenue, B198
    Aurora, CO 80045
    720-777-8591

     
  • Icahn School of Medicine at Mount Sinai
    Principal Investigator: George Diaz, MD, PhD
    Departments of Human Genetics and Pediatrics
    Icahn School of Medicine at Mount Sinai
    Box 1498
    1 Gustave L. Levy Place
    New York, NY 1002
    (212) 241-0858

    Site Coordinator: Catherine Miller
    Department of Genetics and Genomic Sciences
    Icahn School of Medicine at Mount Sinai
    212-659-1456
     
 
 

Total Enrolled

 3