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.
Study Type
OBSERVATIONAL
Boston Children's Hospital
Boston, Massachusetts, United States
Globotriaosylceramide level, plasma
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Globotriaosylceramide level, urine
Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Intelligence scale assessment
Wechsler Adult Intelligence Scale - Revised (WAIS-R) to assess for any changes in intelligence scale over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Quality of life questionnaire
Single score based on questionnaire about quality of life to assess for any changes in scores over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Executive functioning test
Single score based on testing of digit span backwards test, letter fluency, and category fluency to assess any changes in executive function over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Pain questionnaire
Single score based on questionnaire about pain to evaluate progression of pain scores over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Physical exam
Physical exam to evaluate for the development of angiokeratoma lesions and neurological symptoms development over time.
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Transcriptome analysis
High-throughput RNA sequencing will be done on plasma and peripheral blood lymphocytes to evaluate for changes over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Metabolomic analysis
Comprehensive metabolite mapping of biochemical pathways to determine any metabolomic pathway changes in Fabry disease patients over time.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Microbiome analysis
Optional stool sample will be obtained for microbiome analysis to detect the microbiome progression over time in Fabry disease patients.
Time frame: Data will be obtained and studied every 2 years for up to 10 years.
Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.
Investigators will analyze sequencing results to determine the ability of whole exome sequencing to detect pathogenic modifiers of the Fabry disease phenotype.
Time frame: Data will be obtained one time at initial study visit