Clinical trial NCT03145779: Evaluation of Phenotypic Variability in Fabry Disease
Official title: Evaluation of Phenotypic Variability in Fabry Disease
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Fabry Disease
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
First posted: 2017-05-09
Enrollment: 0
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a diagnosis of Fabry disease.

Brief 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.

Eligibility criteria: 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

Primary outcomes:
measure: Globotriaosylceramide level, plasma
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Globotriaosylceramide level, urine
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Intelligence scale assessment
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Quality of life questionnaire
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Executive functioning test
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Pain questionnaire
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Physical exam
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
Secondary outcomes:
measure: Transcriptome analysis
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Metabolomic analysis
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Microbiome analysis
timeFrame: Data will be obtained and studied every 2 years for up to 10 years.
measure: Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.
timeFrame: Data will be obtained one time at initial study visit
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
References: