Evaluation of Phenotypic Variability in Fabry Disease

Status Withdrawn

Clinical Trial Summary

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.

Clinical Trial Description

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 Design

Related Conditions & MeSH terms

Fabry Disease

Clinical Trial Details

NCT number	NCT03145779
Study type	Observational
Source	Boston Children's Hospital
Contact
Status	Withdrawn
Phase
Start date	July 2020
Completion date	July 2030

View Details

See also
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