Ignite Creation Date:
2024-05-05 @ 11:41 AM
Last Modification Date:
2024-10-26 @ 9:11 AM
Study NCT ID:
NCT00106912
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2005-03-31
Brief Title:
Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
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 on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
Status:
COMPLETED
Status Verified Date:
2008-03-27
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 study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001 Fabry disease is an inherited metabolic disorder in which an enzyme called alpha-galactosidase A which normally breaks down fatty substances called glycolipids is missing or does not function properly As a result glycolipids accumulate in various tissues causing liver kidney nerves skin muscle and blood vessel problems No treatment is given in this survey study
Males 18 years of age and older with Fabry disease who have certain genetic mutations associated with enhancement of alpha-galactosidase A activity may be eligible for this study Participants undergo the following tests and procedures over 5 days
Day 1
Medical history and physical examination blood tests electrocardiogram EKG routine urinalysis measurements of height weight and vital signs blood pressure heart rate breathing rate and temperature
Day 2
Blood tests 24-hour urine collection vital signs and sweat test The sweat test also called QSART or quantitative sudomotor axon reflex test measures the amount of sweat in a particular area of skin A small amount of medication called acetylcholine is put on an area of the skin and a small electric current is applied to stimulate the sweat glands
Day 3
Blood tests 24-hour urine collection vital signs and skin biopsy For the skin biopsy a small area of skin is numbed and a punch device is used to remove a 3-mm 18-inch layer of skin for microscopic examination
Day 4
Blood tests 24-hour urine collection vital signs and QSART
Day 5
Blood tests and vital signs
In addition to the above patients are scheduled at some point in the 5-day study for an eye examination brain magnetic resonance angiogram MRA and a heart examination and echocardiogram MRA uses a strong magnetic field and radio waves to provide images of the blood vessels in the head and neck It can detect abnormalities such as aneurysms vessel malformations and thickening of the vessel walls An echocardiogram is an ultrasound test that shows how well the heart pumps blood and if there is thickening of the heart muscle
Patients who are taking enzyme replacement therapy discontinue treatment for up to 6 weeks no more than two missed infusions to allow accurate measurement of the amount of alpha-galactosidase A the patients body produces by itself They provide weekly blood samples between the time they stop treatment and enter the study The samples are used to monitor the removal of the enzyme from the body and the possible buildup of Gb3 in the blood
Males 18 years of age and older with Fabry disease who have certain genetic mutations associated with enhancement of alpha-galactosidase A activity may be eligible for this study Participants undergo the following tests and procedures over 5 days
Day 1
Medical history and physical examination blood tests electrocardiogram EKG routine urinalysis measurements of height weight and vital signs blood pressure heart rate breathing rate and temperature
Day 2
Blood tests 24-hour urine collection vital signs and sweat test The sweat test also called QSART or quantitative sudomotor axon reflex test measures the amount of sweat in a particular area of skin A small amount of medication called acetylcholine is put on an area of the skin and a small electric current is applied to stimulate the sweat glands
Day 3
Blood tests 24-hour urine collection vital signs and skin biopsy For the skin biopsy a small area of skin is numbed and a punch device is used to remove a 3-mm 18-inch layer of skin for microscopic examination
Day 4
Blood tests 24-hour urine collection vital signs and QSART
Day 5
Blood tests and vital signs
In addition to the above patients are scheduled at some point in the 5-day study for an eye examination brain magnetic resonance angiogram MRA and a heart examination and echocardiogram MRA uses a strong magnetic field and radio waves to provide images of the blood vessels in the head and neck It can detect abnormalities such as aneurysms vessel malformations and thickening of the vessel walls An echocardiogram is an ultrasound test that shows how well the heart pumps blood and if there is thickening of the heart muscle
Patients who are taking enzyme replacement therapy discontinue treatment for up to 6 weeks no more than two missed infusions to allow accurate measurement of the amount of alpha-galactosidase A the patients body produces by itself They provide weekly blood samples between the time they stop treatment and enter the study The samples are used to monitor the removal of the enzyme from the body and the possible buildup of Gb3 in the blood
Detailed Description:
This protocol is designed to characterize the clinical and laboratory profile of patients with Fabry disease who have residual levels of Alpha-galactosidase Alpha- Gal A activity Normally these are patients with the later onset or milder forms of the disease sometimes referred to as the cardiac andor renal variants Enzyme Enhancement Therapy is a novel therapeutic approach to treatment of lysosomal storage diseases that has recently been proposed for patients who produce low levels of endogenous enzyme We plan to evaluate this therapy in later-onset Fabry disease patients and in preparation we need to develop sensitive outcome measures for this subset of patients Thirty patients with enhanceable Alpha- Gal A activity will be recruited If on enzyme replacement therapy they will be asked to miss up to two biweekly infusions These patients along with five control patients with non-enhanceableclassic Fabry disease will undergo a comprehensive five day evaluation at the NIH Clinical Center that will include a complete physical examination functional studies of the heart eye kidney and sweat function imaging of the brain and the heart and a number of blood and urine tests as well as a skin biopsy
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 |
|---|---|---|---|
| 05-N-0129 | None | None | None |