Evaluation of Phenotypic Variability in Fabry Disease
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Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels. Understanding how the genotype influences the phenotype or clinical presentation can help us understand which patients are at risk for the complications of Fabry disease. This study aims to follow the natural history of this disease will help us understand and predict long-term outcomes for patients.
Condition or disease
This longitudinal study will be conducted at Boston Children's Hospital (BCH). Subjects recruited for the study will have routine clinical care assessment with a complete physical and neurological exam and biochemical monitoring with venipuncture. In addition as part of the study, subjects will be given questionnaires to assess details of medical and psychosocial history, will complete self-reported measures of neuropsychological evaluation, pain scores, quality of life, executive functioning and cognitive functioning. All patients assessments will be repeated every 2 years.
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Layout table for eligibility information
Ages Eligible for Study:
1 Year and older (Child, Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients with a diagnosis of Fabry disease.
Individuals who carry a classic alpha-galactosidase gene (GLA) mutation
Medical records available including previous genetic testing.
Capable of providing informed consent with assent for patients less than 18 years
Not currently involved in any other clinical trials.