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