Evaluation of Phenotypic Variability in Fabry Disease

Fabry Disease Clinical Trial

Official title:

Evaluation of Phenotypic Variability in Fabry Disease

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT03145779
• Other study ID #: IRB-P00022060
• Status: Withdrawn
• Start date: July 2020
• Est. completion date: July 2030

Study information

• Verified date: December 2020
• Source: Boston Children's Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: July 2030
• Est. primary completion date: July 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year and older

Eligibility

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

Related Conditions & MeSH terms

• Fabry Disease

Locations

Country	Name	City	State
United States	Boston Children's Hospital	Boston	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
Boston Children's Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Globotriaosylceramide level, plasma	Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.	Data will be obtained and studied every 2 years for up to 10 years.
Primary	Globotriaosylceramide level, urine	Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.	Data will be obtained and studied every 2 years for up to 10 years.
Primary	Intelligence scale assessment	Wechsler Adult Intelligence Scale - Revised (WAIS-R) to assess for any changes in intelligence scale over time.	Data will be obtained and studied every 2 years for up to 10 years.
Primary	Quality of life questionnaire	Single score based on questionnaire about quality of life to assess for any changes in scores over time.	Data will be obtained and studied every 2 years for up to 10 years.
Primary	Executive functioning test	Single score based on testing of digit span backwards test, letter fluency, and category fluency to assess any changes in executive function over time.	Data will be obtained and studied every 2 years for up to 10 years.
Primary	Pain questionnaire	Single score based on questionnaire about pain to evaluate progression of pain scores over time.	Data will be obtained and studied every 2 years for up to 10 years.
Primary	Physical exam	Physical exam to evaluate for the development of angiokeratoma lesions and neurological symptoms development over time.	Data will be obtained and studied every 2 years for up to 10 years.
Secondary	Transcriptome analysis	High-throughput RNA sequencing will be done on plasma and peripheral blood lymphocytes to evaluate for changes over time.	Data will be obtained and studied every 2 years for up to 10 years.
Secondary	Metabolomic analysis	Comprehensive metabolite mapping of biochemical pathways to determine any metabolomic pathway changes in Fabry disease patients over time.	Data will be obtained and studied every 2 years for up to 10 years.
Secondary	Microbiome analysis	Optional stool sample will be obtained for microbiome analysis to detect the microbiome progression over time in Fabry disease patients.	Data will be obtained and studied every 2 years for up to 10 years.
Secondary	Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.	Investigators will analyze sequencing results to determine the ability of whole exome sequencing to detect pathogenic modifiers of the Fabry disease phenotype.	Data will be obtained one time at initial study visit