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Evaluation of Phenotypic Variability in Fabry Disease

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ClinicalTrials.gov Identifier: NCT03145779
Recruitment Status : Not yet recruiting
First Posted : May 9, 2017
Last Update Posted : November 16, 2018
Sponsor:
Information provided by (Responsible Party):
Farrah Rajabi, Boston Children’s Hospital

Tracking Information
First Submitted Date May 3, 2017
First Posted Date May 9, 2017
Last Update Posted Date November 16, 2018
Estimated Study Start Date July 2020
Estimated Primary Completion Date July 2030   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 4, 2017)
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03145779 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: May 4, 2017)
  • 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.
  • 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.
  • 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.
  • 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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Evaluation of Phenotypic Variability in Fabry Disease
Official Title Evaluation of Phenotypic Variability in 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.
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with a diagnosis of Fabry disease.
Condition Fabry Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Not yet recruiting
Estimated Enrollment
 (submitted: May 4, 2017)
25
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 2030
Estimated Primary Completion Date July 2030   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages 1 Year and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Vera Anastasoaie 617-355-7346 Vera.Aanastasoaie@childrens.harvard.edu
Contact: Farrah Rajabi, MD 857-218-4087 Farrah.Rajabi@childrens.harvard.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03145779
Other Study ID Numbers IRB-P00022060
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Farrah Rajabi, Boston Children’s Hospital
Study Sponsor Boston Children’s Hospital
Collaborators Not Provided
Investigators Not Provided
PRS Account Boston Children’s Hospital
Verification Date November 2018