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

June 30, 2017 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

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

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment

35

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Description

  • INCLUSION CRITERIA:
  • 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.

EXCLUSION CRITERIA:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 28, 2005

Study Completion

March 27, 2008

Study Registration Dates

First Submitted

March 31, 2005

First Submitted That Met QC Criteria

March 31, 2005

First Posted (Estimate)

April 1, 2005

Study Record Updates

Last Update Posted (Actual)

July 2, 2017

Last Update Submitted That Met QC Criteria

June 30, 2017

Last Verified

March 27, 2008

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 050129
  • 05-N-0129

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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