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Evaluation of Phenotypic Variability in Fabry Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03145779
Recruitment Status : Withdrawn (Funding)
First Posted : May 9, 2017
Last Update Posted : December 3, 2020
Sponsor:
Information provided by (Responsible Party):
Farrah Rajabi, Boston Children's Hospital

Study Description
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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.

Condition or disease
Fabry Disease

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.
Study Design
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Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Evaluation of Phenotypic Variability in Fabry Disease
Estimated Study Start Date : July 2020
Estimated Primary Completion Date : July 2030
Estimated Study Completion Date : July 2030

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Globotriaosylceramide level, plasma [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.

  2. Globotriaosylceramide level, urine [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Biomarker for deficiency of alpha-galactosidase A (GLA) activity measured to determine if there are changes over time.

  3. Intelligence scale assessment [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Wechsler Adult Intelligence Scale - Revised (WAIS-R) to assess for any changes in intelligence scale over time.

  4. Quality of life questionnaire [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Single score based on questionnaire about quality of life to assess for any changes in scores over time.

  5. Executive functioning test [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Single score based on testing of digit span backwards test, letter fluency, and category fluency to assess any changes in executive function over time.

  6. Pain questionnaire [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Single score based on questionnaire about pain to evaluate progression of pain scores over time.

  7. Physical exam [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Physical exam to evaluate for the development of angiokeratoma lesions and neurological symptoms development over time.


Secondary Outcome Measures :
  1. Transcriptome analysis [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    High-throughput RNA sequencing will be done on plasma and peripheral blood lymphocytes to evaluate for changes over time.

  2. Metabolomic analysis [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Comprehensive metabolite mapping of biochemical pathways to determine any metabolomic pathway changes in Fabry disease patients over time.

  3. Microbiome analysis [ Time Frame: Data will be obtained and studied every 2 years for up to 10 years. ]
    Optional stool sample will be obtained for microbiome analysis to detect the microbiome progression over time in Fabry disease patients.

  4. Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype. [ Time Frame: Data will be obtained one time at initial study visit ]
    Investigators will analyze sequencing results to determine the ability of whole exome sequencing to detect pathogenic modifiers of the Fabry disease phenotype.


Eligibility Criteria
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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a diagnosis of Fabry disease.
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03145779


Locations
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United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children's Hospital
More Information
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Responsible Party: Farrah Rajabi, Instructor, Division of Genetics and Genomics, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT03145779    
Other Study ID Numbers: IRB-P00022060
First Posted: May 9, 2017    Key Record Dates
Last Update Posted: December 3, 2020
Last Verified: December 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Fabry Disease
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
 Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders