Clinical Trial: Data Collection in Women With Fabry Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: A Study to Collect Normative Data in Female Patients With Fabry Disease

Brief Summary:

This protocol will collect information needed to design a clinical study for the symptoms and problems of women with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called a-galactosidase A, which normally breaks down fatty substances called glycolipids, does not function properly. The resulting accumulation of glycolipids in various tissues causes arm and leg pain, skin lesions, and problems with the kidneys, heart, nerves, and blood vessels. This protocol does not involve any experimental drug treatments, but participants may be offered enrollment in future studies and registries.

Women 18 years of age and older with Fabry disease who have not had enzyme replacement therapy may participate in this study. Pregnant women are eligible, but may be excluded from certain procedures, such as magnetic resonance imaging (MRI).

Participants will have the following tests and procedures over a 3-day period:

  • Personal and family medical history
  • Physical, neurological, and eye examinations
  • Blood and urine tests
  • Electrocardiogram (ECG) to measure electrical activity of the heart
  • Echocardiogram (ultrasound) to examine the heart muscles and pumping action
  • Magnetic resonance imaging (MRI) to examine the brain. This test uses a magnetic field and radio waves to produce images of the brain. The patient lies in a narrow cylinder (the MRI scanner) during the imaging and may talk with staff at any time during the procedure.
  • Magnetic resonance angiogram (MRA) to examine the blood vessels in the head and neck. This procedure is simil

    Detailed Summary: This is a study to collect normative data in female patients with Fabry disease. After signing informed consent, patients will complete various study evaluations. Serious adverse events will be monitored throughout the patients study participation (approximately 7 days).
    Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)

    Current Primary Outcome:

    Original Primary Outcome:

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: National Institutes of Health Clinical Center (CC)

    Dates:
    Date Received: February 2, 2002
    Date Started: January 2002
    Date Completion: February 2003
    Last Updated: March 3, 2008
    Last Verified: February 2003