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Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00106912
Recruitment Status : Completed
First Posted : April 1, 2005
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

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 (1/8-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 patient's 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 Gb(3) in the blood.

Condition or disease
Fabry Disease

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 and/or 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-enhanceable(classic) 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.

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Study Type : Observational
Enrollment : 35 participants
Official Title: A Study to Collect Normative Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
Study Start Date : March 28, 2005
Study Completion Date : March 27, 2008

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
  • Age 18 and older males
  • Patients will be included if they possess an Alpha-Gal A mutation that in previous investigations has been associated with enhancement of enzyme activity, as judged by the Principal Investigator.


  • Patients whose general health prevents them from participating.
  • Patients with significant disease unrelated to Fabry disease (e.g. diabetes, cancer).
  • Patients who refuse to sign the informed consent form or who are unable to travel to the NIH Clinical Center.
  • Patients who are currently participating in a clinical trial of small molecule or gene therapy for Fabry disease.
  • Patients who are currently participating in a clinical trial for any condition other than Fabry disease.
  • Patients who are judged by the Principal Investigator to be not qualified to participate.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00106912

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Layout table for additonal information Identifier: NCT00106912    
Other Study ID Numbers: 050129
First Posted: April 1, 2005    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: March 27, 2008
Keywords provided by National Institutes of Health Clinical Center (CC):
Fabry Disease
Additional relevant MeSH terms:
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Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders