Evaluation of Phenotypic Variability in Fabry Disease

Evaluation of Phenotypic Variability in Fabry Disease

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.

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.

Inclusion Criteria:

• Individuals who carry a classic alpha-galactosidase gene (GLA) mutation
• All ages
• 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.

Exclusion Criteria:

• No medical records available
• No record of genotype
• Not capable of providing informed consent
• Currently involved in any clinical trial