Anderson-Fabry Disease Fitness Improvement Training: A-FAD-FIT
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Change from baseline in peak oxygen uptake (VO2peak) after 12 weeks
研究概览
简要总结
This study will evaluate physical function, cardiorespiratory fitness, muscle strength, and quality of life in patients with Fabry disease and assess the effects of a 12-week physiotherapy-led exercise programme. Participants will be non-randomly assigned to an exercise intervention group or a control group receiving no study-specific exercise intervention. The intervention group will be assessed at baseline, immediately after the 12-week intervention, and 12 months after baseline. The control group will be assessed at baseline and 12 months after baseline.
详细描述
Fabry disease is a rare X-linked lysosomal storage disorder associated with multisystem involvement, reduced exercise tolerance, fatigue, pain, and impaired quality of life. Evidence regarding structured physiotherapy and exercise interventions in this population remains limited.
The aim of this study is to evaluate functional and cardiorespiratory capacity in patients with Fabry disease and to investigate the effects of a 12-week physiotherapy-led exercise programme. Participants will be non-randomly assigned to either an exercise intervention group or a control group receiving no study-specific exercise intervention. Group assignment will primarily reflect participants' willingness to participate in the exercise programme and logistical feasibility, particularly the ability to attend regular supervised exercise sessions.
Participants in the intervention group will complete a 12-week physiotherapy-led programme consisting of one supervised exercise session per week and two home-based exercise sessions per week. Supervised sessions include a brief aerobic warm-up followed by strengthening exercises using body weight and resistance bands. The programme also includes a progressive increase in daily ambulatory physical activity, monitored primarily by daily step count. Participants in the intervention group will be assessed at baseline, immediately after the 12-week intervention, and 12 months after baseline.
Participants in the control group will receive no study-specific exercise intervention and will be assessed at baseline and 12 months after baseline. The study will evaluate short-term changes following the exercise intervention as well as longer-term changes in the main study outcomes.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
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
- •Confirmed diagnosis of Fabry disease
- •Age 18 years or older
- •Followed at a participating clinical center
- •Able to understand the study procedures and provide informed consent
- •Clinically stable and medically suitable for exercise testing and participation in the exercise programme
排除标准
- •Acute deterioration in health status at the time of enrollment
- •Medical contraindication to exercise testing or exercise training
- •Severe comorbidity preventing safe participation in the study procedures
- •Inability to comply with study procedures or complete follow-up assessments
研究组 & 干预措施
Exercise Intervention Group
Participants will complete a 12-week physiotherapy-led exercise programme consisting of one supervised exercise session per week and two home-based exercise sessions per week, together with a progressive increase in daily step count. Supervised sessions include a brief aerobic warm-up followed by strengthening exercises using body weight and resistance bands. Participants will be assessed at baseline, immediately after the 12-week intervention, and 12 months after baseline.
干预措施: Physiotherapy exercise programe (Behavioral)
Control Group
Participants will receive no study-specific exercise intervention. They will be assessed at baseline and 12 months after baseline.
结局指标
主要结局
Change from baseline in peak oxygen uptake (VO2peak) after 12 weeks
时间窗: Baseline and 12 weeks after baseline
Change from baseline in peak oxygen uptake (VO2peak), expressed in mL/kg/min, assessed during cardiopulmonary exercise testing (CPET) in the exercise intervention group following the 12-week exercise programme.
次要结局
- Change from baseline in peak oxygen uptake (VO2peak) at 12 months(Baseline and 12 months after baseline)
- Change in handgrip strength(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in 6-minute walk distance(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in 30-second chair stand test performance(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in forced expiratory volume in 1 second (FEV1)(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in vital capacity (VC)(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in diffusing capacity of the lungs for carbon monoxide (DLCO)(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in Hospital Anxiety and Depression Scale - Anxiety subscale score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in Hospital Anxiety and Depression Scale - Depression subscale score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 Physical Functioning domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 Role Physical domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 Bodily Pain domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 General Health domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 Vitality domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 Social Functioning domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 Role Emotional domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in SF-36 Mental Health domain score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in EQ-5D-5L health state index value(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in EQ-5D-5L Visual Analogue Scale score(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in skeletal muscle mass(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in body fat mass(Baseline, 12 weeks after baseline, and 12 months after baseline)
- Change in whole-body phase angle(Baseline, 12 weeks after baseline, and 12 months after baseline)
研究者
Jan Vávra
Principal Investigator
General University Hospital, Prague