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The Natural History and Pathogenesis of Fabry Disease


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N/A
Not Enrolling
Both
Fabry's Disease

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Trial Information

The Natural History and Pathogenesis of Fabry Disease


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.

Inclusion 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.

Type of Study:

Observational

Study Design:

N/A

Authority:

United States: Federal Government

Study ID:

950121

NCT ID:

NCT00001491

Start Date:

May 1995

Completion Date:

March 2008

Related Keywords:

  • Fabry's Disease
  • Ceramidetrihexosidase Deficiency
  • Sural Nerve Biopsy
  • Nerve Conduction Studies
  • Quantitative Sensory Testing
  • PGP 9.5 Levels (Skin, Serum and CSF)
  • Fabry Disease
  • Fabrys
  • Fabry's
  • Fabry Disease

Name

Location
National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892