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Data Collection in Women With Fabry Disease

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: February 2, 2002
Last updated: March 3, 2008
Last verified: February 2003

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 similar to MRI.
  • Genotyping to confirm the diagnosis of Fabry disease. DNA from a blood sample will be examined for the gene associated with Fabry disease.
  • Skin punch biopsy for microscopic examination of tissue. A piece of skin tissue about 1/8-inch thick is removed with a cookie cutter-like instrument.

Participants will also complete two questionnaires regarding pain and quality of life. They will be asked to stop taking pain medications for 7 days before completing the pain questionnaire, but may resume medications before 7 days if the pain is too intense. The questionnaire will be completed by telephone interview.

Patients will also be asked to keep a diary of pain medications taken for 7 days while on the study.

Fabry Disease

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

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 60
Study Start Date: January 2002
Estimated Study Completion Date: February 2003
Detailed Description:
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).

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No

The patient must provide written informed consent prior to any study-related procedures being performed.

Patients must be 18 years of age or older.

Patients must have signs of symptoms consistent with Fabry disease with no prior treatment with any enzyme replacement therapy for Fabry Disease.

Patients of childbearing potential must have a negative pregnancy test (urine beta-hCG) in order to complete all study tests.

If a patient is pregnant, they may still enter the trial but may not participate in MRI or MRA procedures.

Patients who have received an investigational drug within 30 days prior to study enrollment or received prior treatment with any enzyme replacement therapy for Fabry disease will be excluded.

Patients who have diabetic nephropathy or other confounding renal disorder will be excluded.

Patients who have a clinically significant organic disease or an unstable condition that, in the opinion of the Investigator, would preclude participation in this protocol will be excluded.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00030134

United States, Maryland
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Publications: Identifier: NCT00030134     History of Changes
Other Study ID Numbers: 020116
Study First Received: February 2, 2002
Last Updated: March 3, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
Natural History
Female Carrier
Lysosomal Disease
Fabry Disease

Additional relevant MeSH terms:
Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on September 20, 2017