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Evaluation of Phenotypic Variability in Fabry Disease

NCT ID: NCT03145779

Last Updated: 2020-12-03

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

WITHDRAWN

Study Classification

OBSERVATIONAL

Study Start Date

2020-07-31

Study Completion Date

2030-07-31

Brief Summary

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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

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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

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Fabry Disease

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Farrah Rajabi

Instructor, Division of Genetics and Genomics

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Boston Children's Hospital

Boston, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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IRB-P00022060

Identifier Type: -

Identifier Source: org_study_id