The Natural History and Pathogenesis of Fabry Disease
Data Collection
Brain Diseases+19
+ Brain Diseases, Metabolic
+ Cardiovascular Diseases
Summary
Study start date: May 11, 1995
Actual date on which the first participant was enrolled.OBJECTIVE: The purpose of this protocol is to study the natural history of Fabry disease in the different organ systems, understand its pathogenesis, and develop adequate clinical outcome measures for therapy trials. Development of sensitive outcome measures is a prerequisite of enzyme or gene replacement trials in patients with Fabry's disease. STUDY POPULATION: Patients with Fabry disease of all ages. The patients are not foregoing available treatment to participate in this protocol. Experimental treatment is not part of this study. STUDY DESIGN: Patients will typically be seen once a year at NIH. Patients will have comprehensive testing in order to evaluate the state of their health as affected by the Fabry disease. OUTCOME MEASURES: All potential clinically relevant areas will be evaluated comprehensively with a particular emphasis on the vasculopathy and the peripheral neuropathy of Fabry disease.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.325 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
INCLUSION CRITERIA: All patients with Fabry's disease will be considered as potential candidates for this study. EXCLUSION CRITERIA: All candidates must be serologically nonreactive for human immunodeficiency (AIDS) virus. HIV positive patients will be excluded because of the effects of the latter illness on the nervous system. Patients with Fabry's disease will be excluded from participation if they have additional illnesses such as cancer, diabetes or vasculitis that could potentially involve the nervous system. The general health and well being of each candidate must be sufficient to allow for a modest amount of blood drawing, collection of appropriate laboratory specimens and performance of necessary roentgenograpic and magnetic resonance (MR) imaging studies. In addition, each candidate must be able to return to the National Institutes of Health (NIH) annually for monitoring of clinical and laboratory parameters.
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, United StatesOpen National Institutes of Health Clinical Center, 9000 Rockville Pike in Google Maps