Evaluation of Phenotypic Variability in Fabry Disease
2020年12月1日 更新者：Farrah Rajabi、Boston Children's Hospital
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.
研究概览
地位
撤销
条件
详细说明
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.
研究类型
观察性的
联系人和位置
本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。
学习地点
-
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Massachusetts
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Boston、Massachusetts、美国、02115
- Boston Children's Hospital
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参与标准
研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
1年 及以上 (孩子、成人、年长者)
接受健康志愿者
不
有资格学习的性别
全部
取样方法
非概率样本
研究人群
Patients with a diagnosis of Fabry disease.
描述
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
学习计划
本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。
研究是如何设计的？
设计细节
- 观测模型：仅案例
- 时间观点：预期
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Globotriaosylceramide level, plasma
大体时间：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.
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Data will be obtained and studied every 2 years for up to 10 years.
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Globotriaosylceramide level, urine
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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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.
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Intelligence scale assessment
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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Wechsler Adult Intelligence Scale - Revised (WAIS-R) to assess for any changes in intelligence scale over time.
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Data will be obtained and studied every 2 years for up to 10 years.
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Quality of life questionnaire
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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Single score based on questionnaire about quality of life to assess for any changes in scores over time.
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Data will be obtained and studied every 2 years for up to 10 years.
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Executive functioning test
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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Single score based on testing of digit span backwards test, letter fluency, and category fluency to assess any changes in executive function over time.
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Data will be obtained and studied every 2 years for up to 10 years.
|
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Pain questionnaire
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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Single score based on questionnaire about pain to evaluate progression of pain scores over time.
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Data will be obtained and studied every 2 years for up to 10 years.
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Physical exam
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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Physical exam to evaluate for the development of angiokeratoma lesions and neurological symptoms development over time.
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Data will be obtained and studied every 2 years for up to 10 years.
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Transcriptome analysis
大体时间：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.
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Data will be obtained and studied every 2 years for up to 10 years.
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Metabolomic analysis
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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Comprehensive metabolite mapping of biochemical pathways to determine any metabolomic pathway changes in Fabry disease patients over time.
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Data will be obtained and studied every 2 years for up to 10 years.
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Microbiome analysis
大体时间：Data will be obtained and studied every 2 years for up to 10 years.
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Optional stool sample will be obtained for microbiome analysis to detect the microbiome progression over time in Fabry disease patients.
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Data will be obtained and studied every 2 years for up to 10 years.
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Targeted exome sequencing for evaluation of potential modifiers of Fabry disease phenotype.
大体时间：Data will be obtained one time at initial study visit
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Investigators will analyze sequencing results to determine the ability of whole exome sequencing to detect pathogenic modifiers of the Fabry disease phenotype.
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Data will be obtained one time at initial study visit
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合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始 (预期的)
2020年7月1日
初级完成 (预期的)
2030年7月1日
研究完成 (预期的)
2030年7月1日
研究注册日期
首次提交
2017年5月3日
首先提交符合 QC 标准的
2017年5月4日
首次发布 (实际的)
2017年5月9日
研究记录更新
最后更新发布 (实际的)
2020年12月3日
上次提交的符合 QC 标准的更新
2020年12月1日
最后验证
2020年12月1日
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- IRB-P00022060
计划个人参与者数据 (IPD)
计划共享个人参与者数据 (IPD)？
不
药物和器械信息、研究文件
研究美国 FDA 监管的药品
不
研究美国 FDA 监管的设备产品
不
在美国制造并从美国出口的产品
不
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.
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