FunctiOnal caPaciTy Evaluation Using cardIopulMonary Testing and Stress echocArdiography in Anderson-Fabry Disease Patients: OPTIMA-FD Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100
- 试验地点
- 8
- 主要终点
- CPET parameters- peak Vo2
研究概览
简要总结
The goal of this observational study is to observe the relation between excercise parameters - assessed by CPET - and rest/stress hemodynamic parameters - assessed by echocardiogram and CMR - in patients with a genetic diagnosis of Anderson-Fabry Disease.
Participants will undergo:
- baseline evaluation: clinical evaluation, disease staging with FASTEX and MSSI, KCCQ for quality of life assessment, resting 12-leads ECG, 6MWT, CPET-ESE and contrast-enhanced CMR;
- before 36 months from baseline: resting 12-leads ECG, 2D rest and stress echocardiogram, CPET-ESE, contrast-enhanced CMR, disease staging with FASTEX and MSSI and KCCQ for quality of life assessment;
- up to 7 years from baseline: clinical follow-up.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with a genetic diagnosis of AFD, according to current guidelines;
- •Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age <18 years old, written consent from a caregiver is mandatory).
排除标准
- •eGFR <30 ml/min and other contraindications for CMR (relative controindication: patients with implantable device);
- •Musculoskeletal limitation for exercise test on the cyclo ergometer;
- •Pregnant or breastfeeding women;
- •Any serious medical or psychiatric illness that could, in the investigator's opinion, potentially interfere with a full comprehension of the written consent form.
结局指标
主要结局
CPET parameters- peak Vo2
时间窗: At baseline and before 36 months from baseline.
Peak VO2 ml/Kg/min
CPET parameters- predicted peak Vo2
时间窗: At baseline and before 36 months from baseline.
Predicted peak VO2 (%).
CPET parameters- VE/VCO2 slope
时间窗: At baseline and before 36 months from baseline.
VE/VCO2 slope
CPET parameters- oxygen pulse
时间窗: At baseline and before 36 months from baseline.
02 pulse (ml/beat)
CPET parameters- heart rate during exercise
时间窗: At baseline and before 36 months from baseline.
Heart rate reserve (beats/minute) Heart rate recovery (beat/minute) Heart rate recovery at one minute (beat/minute)
CPET parameters- presence of chronotropic incompetence, O2 pulse flattening and exercise oscillatory ventilation
时间窗: At baseline and before 36 months from baseline.
Chronotropic incompetence (yes/no) 02 pulse flattening (yes/no) exercise oscillatory ventilation (yes/no)
CPET parameters- VO2/work slope
时间窗: At baseline and before 36 months from baseline.
VO2/work slope (ml/min/watt)
Echocardiogram parameters- diastolic function at rest
时间窗: At baseline and before 36 months from baseline.
At rest E/A ratio. At rest mean E/E'. At rest left atrial reservoir function (%). At rest sPAP (mmHg).
Echocardiogram parameters- systolic function of the left and right ventricle at rest
时间窗: At baseline and before 36 months from baseline.
At rest TAPSE (mm) At rest LV ejection fraction (%) At rest LV stroke volume indexed for body mass surface (ml/mq) At rest right ventricular free wall strain (%)
Echocardiogram parameters- right ventricle-pulmonary artery coupling at rest.
时间窗: At baseline and before 36 months from baseline.
At rest TAPSE/sPAP (mm/mmHg)
Echocardiogram parameters- exertional diastolic function
时间窗: At baseline and before 36 months from baseline.
exertional E/A, exertional mean E/E' exertional TAPE/sPAP (mm/mmHg) mPAP/CO (mmHg/L/min)
CMR parameters - LV Mass and LV Max Wall Thickness
时间窗: At baseline and before 36 months from baseline.
LV mass (gr) and LV max wall thickness (mm).
CMR parameters - Systolic Function
时间窗: At baseline and before 36 months from baseline.
Stroke volume indexed to body surface (ml/m2) and left ventricular ejection fraction (%).
CMR parameters - T1 and T2 Mapping
时间窗: At baseline and before 36 months from baseline.
T1 and T2 mapping (msec).
CMR parameters - presence of late gadolinium enhancement
时间窗: At baseline and before 36 months from baseline.
late gadolinium enhancement (yes/no)
CMR parameters - ECV
时间窗: At baseline and before 36 months from baseline.
Extracellular volume (%)
次要结局
- Incidence of Cardiovascular Events(Up to 7 years follow-up.)
研究者
Massimo Piepoli
MD, PhD
IRCCS Policlinico S. Donato