Ignite Creation Date:
2024-05-05 @ 11:25 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00030134
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
2002-02-02
Brief Title:
Data Collection in Women With Fabry Disease
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
A Study to Collect Normative Data in Female Patients With Fabry Disease
Status:
COMPLETED
Status Verified Date:
2003-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 18-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
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 18-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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-N-0116 | None | None | None |