Evaluation of Phenotypic Variability in Fabry Disease

NCT03145779 | Withdrawn

• 1 other identifier: IRB-P00022060
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (7)

• 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.

• 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.

• 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.

• 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.

• 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.

• 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.

• 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 Outcomes (4)

• Transcriptome analysis

  Data will be obtained and studied every 2 years for up to 10 years.

• Metabolomic analysis

  Data will be obtained and studied every 2 years for up to 10 years.

• Microbiome analysis

  Data will be obtained and studied every 2 years for up to 10 years.

• Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.

  Data will be obtained one time at initial study visit

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a diagnosis of Fabry disease.

You may qualify if:

• 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.

You may not qualify if:

• No medical records available
• No record of genotype
• Not capable of providing informed consent
• Currently involved in any clinical trial

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Instructor, Division of Genetics and Genomics

Study Record Dates

• First Submitted: May 3, 2017
• First Posted: May 9, 2017
• Study Start: July 1, 2020
• Primary Completion (Estimated): July 1, 2030
• Study Completion (Estimated): July 1, 2030
• Last Updated: December 3, 2020

Record last verified: 2020-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)