Evaluation of Phenotypic Variability in Fabry Disease
| Status: | Not yet recruiting |
|---|---|
| Conditions: | Hematology, Metabolic |
| Therapuetic Areas: | Hematology, Pharmacology / Toxicology |
| Healthy: | No |
| Age Range: | 1 - Any |
| Updated: | 11/18/2018 |
| Start Date: | July 2020 |
| End Date: | July 2030 |
| Contact: | Vera Anastasoaie |
| Email: | Vera.Aanastasoaie@childrens.harvard.edu |
| Phone: | 617-355-7346 |
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.
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.
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
We found this trial at
1
site
300 Longwood Ave
Boston, Massachusetts 02115
Boston, Massachusetts 02115
(617) 355-6000
Phone: 617-355-7346
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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