Evaluation of Phenotypic Variability in Fabry Disease

Withdrawn before enrolling

Conditions studied: Fabry Disease

In brief

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.

Key facts

Study ID

NCT03145779

Run by

Boston Children's Hospital

People needed

0

Starts

2020-07-01

Expected to finish

2030-07-01

Last updated by the study team

2020-12-03

Who can join

Age: 1 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

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

Where it is running

• Boston Children's Hospital — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.