Trials / Withdrawn
WithdrawnNCT03145779
Evaluation of Phenotypic Variability in Fabry Disease
- Status
- Withdrawn
- Phase
- —
- Study type
- Observational
- Enrollment
- 0 (actual)
- Sponsor
- Boston Children's Hospital · Academic / Other
- Sex
- All
- Age
- 1 Year
- Healthy volunteers
- Not accepted
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.
Detailed 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.
Conditions
Timeline
- Start date
- 2020-07-01
- Primary completion
- 2030-07-01
- Completion
- 2030-07-01
- First posted
- 2017-05-09
- Last updated
- 2020-12-03
Locations
1 site across 1 country: United States
Source: ClinicalTrials.gov record NCT03145779. Inclusion in this directory is not an endorsement.