An Observational Study of Enzyme Replacement Therapy-Naïve and Agalsidase Beta-Treated Fabry Disease Patients With GLA IVS4 919 G>A Mutation in Taiwan
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- Sanofi
- 入组人数
- 78
- 试验地点
- 10
- 主要终点
- Cohort 2: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients
研究概览
简要总结
This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female Fabry disease adult patients who carry the GLA IVS4.
This study aims to retrospectively and prospectively investigate the disease natural history, clinical manifestations, and the treatment outcomes upon agalsidase beta in Fabry disease (FD) patients carrying the GLA IVS4 mutation from medical records, physician assessments, and patient-reported outcomes.
详细描述
Study Design Time Perspective: Retrospective and Prospective
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Provide signed informed consent.
- •Male or female Fabry disease patient with documented GLA IVS4 in medical record.
- •Age ≥ 18 years old at the time of signing informed consent.
- •The maximum proportion of female is 20% of cohort
- •Patient who has received agalsidase beta treatment for at least 6 months.
- •The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation.
- •Male or female Fabry disease patient with documented GLA IVS4 in medical record.
- •Age ≥ 18 years old at the time of signing informed consent.
- •The maximum proportion of female is 20% of cohort
- •Patient who plans to apply for the National Health Insurance Reimbursement for agalsidase beta medication.
- •The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation.
- •Male or female Fabry disease patients with documented GLA IVS4 mutation in medical record.
- •Male patient is aged ≥ 30 years old and female patient is aged ≥ 40 years old at the time of signing informed consent.
- •The maximum proportion of female is 20% of cohort
- •Patient who has never received agalsidase alpha or agalsidase beta treatment (ERT-naïve).
- •Elevated blood lyso-Gb
- •At least ONE of the following conditions documented in medical record:
- •cardiac parameter abnormalities (e.g. via imaging, electrophysiology, or biomarker);
- •at least one FD-related sign/symptom.
- •The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months.
- •Patients who are expected not to receive ERT or FD-specific treatment per investigator's judgement.
排除标准
- •Any condition that, in the opinion of the Investigator, may interfere with patient's participation in the study, such as life expectancy of less than 6 months (e.g. diagnosed with malignancy, CAD)
- •Fabry patients who have severe heart disease (NYHA Class IV) or severe myocardial fibrosis per investigator judgement
- •Known non-Fabry disease infiltrative cardiomyopathy including amyloidosis
- •Known non-GLA genetic (e.g., sarcomeric, metabolic mutations) hypertrophic cardiomyopathy.
- •Patients who are receiving any Fabry disease-specific treatment (enzyme replacement therapy, chaperone therapy, substrate reduction therapy, or gene therapy) other than agalsidase beta for Fabry disease
- •Pregnancy or suspected pregnancy
- •Patient diagnosed with moderate to severe dementia
- •Unstable patient condition as judged by investigator (e.g., hypertension, diabetes, and systematic disease)
研究组 & 干预措施
Cohort 1
Patients with Galactosidase Alpha gene (GLA) IVS4 who have already received agalsidase beta treatment
Cohort 2
Patients with GLA IVS4 who will initiate agalsidase beta treatment
Cohort 3
Enzyme replacement therapy (ERT)-naive Fabry disease patients with GLA IVS4
结局指标
主要结局
Cohort 2: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients
时间窗: up to 1.5 years
Cohort 1: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients
时间窗: through study completion with a minimum of 2 years
次要结局
- Change of Left posterior wall thickness (LPWT) as measured by echocardiography(For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years)
- Change of left ventricular mass index (LVMI) as measured by echocardiography in ERT-naive patients(For cohort 3, through study completion with a minimum of 1.5 years)
- Change of Interventricular septal thickness (IVST) as measured by echocardiography(For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years)
- Change of blood Globotriaosylsphingosine (lyso-Gb3) concentration(For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years)