Data Collection in Women With Fabry Disease
A Study to Collect Normative Data in Female Patients With Fabry Disease
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.
研究概览
地位
条件
详细说明
研究类型
注册
联系人和位置
学习地点
-
-
Maryland
-
Bethesda、Maryland、美国、20892
- National Institute of Neurological Disorders and Stroke (NINDS)
-
-
参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
有资格学习的性别
描述
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.
学习计划
研究是如何设计的?
合作者和调查者
出版物和有用的链接
一般刊物
- 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.
- 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.
- 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.
研究记录日期
研究主要日期
学习开始
研究完成
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (估计)
上次提交的符合 QC 标准的更新
最后验证
更多信息
此信息直接从 clinicaltrials.gov 网站检索,没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求,请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改,我们的网站上也会自动更新.