Data Collection in Women With Fabry Disease

NCT ID: NCT00030134

Last Updated: 2008-03-04

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 60 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2002-01-31
• Study Completion Date: 2003-02-28

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 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.

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).

Conditions

Fabry Disease

Eligibility Criteria

Exclusion Criteria

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.

• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: lead

Locations

National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, Maryland, United States

Countries

United States

References

Ahlmen J, Hultberg B, Brynger H, Sjoblad S, Svalander C. Clinical and diagnostic considerations in Fabry's disease. Acta Med Scand. 1982;211(4):309-12. doi: 10.1111/j.0954-6820.1982.tb01952.x.

Reference Type: BACKGROUND

PMID: 6808807 (View on PubMed)

Aivazian AA, Trofimov IB, Seredniakova NI. [Ultrastructural changes in the skin of patients with Fabry's angiokeratoma]. Arkh Patol. 1985;47(7):60-3. Russian.

Reference Type: BACKGROUND

PMID: 2996471 (View on PubMed)

Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, Panza JA, Schiffmann R. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke. 2001 Jul;32(7):1559-62. doi: 10.1161/01.str.32.7.1559.

Reference Type: BACKGROUND

PMID: 11441201 (View on PubMed)

Other Identifiers

02-N-0116

Identifier Type: -

Identifier Source: secondary_id

020116

Identifier Type: -

Identifier Source: org_study_id