Anderson-Fabry Disease Fitness Improvement Training

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.

Change from baseline in peak oxygen uptake (VO2peak), expressed in mL/kg/min, assessed during cardiopulmonary exercise testing (CPET). VO2peak will be assessed at baseline and 12 months after baseline in both the exercise intervention and control groups. The change over 12 months will be compared between groups.

Change in handgrip strength, expressed in kilograms, assessed using handgrip dynamometry. Participants will be assessed in a seated position with the arm close to the body and the elbow flexed at approximately 90 degrees. Three maximal trials will be performed for each hand. The highest value from each hand will be retained, and the mean of the highest right- and left-hand values will be used as the handgrip strength outcome. In the intervention group, handgrip strength will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, handgrip strength will be assessed at baseline and 12 months after baseline.

Change in distance walked during the 6-minute walk test, expressed in meters. In the intervention group, the 6-minute walk distance will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the 6-minute walk distance will be assessed at baseline and 12 months after baseline.

Change in the number of completed stands during the 30-second chair stand test. In the intervention group, performance will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, performance will be assessed at baseline and 12 months after baseline.

Change in forced expiratory volume in 1 second (FEV1), expressed in liters, assessed by pulmonary function testing. In the intervention group, FEV1 will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, FEV1 will be assessed at baseline and 12 months after baseline.

Change in vital capacity (VC), expressed in liters, assessed by pulmonary function testing. In the intervention group, VC will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, VC will be assessed at baseline and 12 months after baseline.

Change in diffusing capacity of the lungs for carbon monoxide (DLCO), expressed in mmol/min/kPa, assessed by pulmonary function testing. In the intervention group, DLCO will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, DLCO will be assessed at baseline and 12 months after baseline.

Change in anxiety symptoms assessed using the Anxiety subscale of the Hospital Anxiety and Depression Scale (HADS). The subscale consists of 7 items scored from 0 to 3, resulting in a total score ranging from 0 to 21. Higher scores indicate greater severity of anxiety symptoms. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in depressive symptoms assessed using the Depression subscale of the Hospital Anxiety and Depression Scale (HADS). The subscale consists of 7 items scored from 0 to 3, resulting in a total score ranging from 0 to 21. Higher scores indicate greater severity of depressive symptoms. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in physical functioning assessed using the Physical Functioning domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 10 items and is scored from 0 to 100, with higher scores indicating better physical functioning. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in limitations in usual role activities due to physical health problems assessed using the Role Physical domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 4 items and is scored from 0 to 100, with higher scores indicating fewer limitations due to physical health problems. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in bodily pain assessed using the Bodily Pain domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 2 items and is scored from 0 to 100, with higher scores indicating less pain and less interference of pain with usual activities. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in general health perceptions assessed using the General Health domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 5 items and is scored from 0 to 100, with higher scores indicating better perceived general health. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in vitality assessed using the Vitality domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 4 items and is scored from 0 to 100, with higher scores indicating greater vitality and lower levels of fatigue. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in social functioning assessed using the Social Functioning domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 2 items and is scored from 0 to 100, with higher scores indicating better social functioning and less interference of health problems with social activities. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in limitations in usual role activities due to emotional problems assessed using the Role Emotional domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 3 items and is scored from 0 to 100, with higher scores indicating fewer role limitations due to emotional problems. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in mental health assessed using the Mental Health domain of the 36-Item Short Form Health Survey (SF-36). The domain consists of 5 items and is scored from 0 to 100, with higher scores indicating better mental health and psychological well-being. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in health-related quality of life assessed using the EQ-5D-5L descriptive system. The instrument assesses five dimensions: mobility, self-care, usual activities, pain/discomfort, and anxiety/depression, each rated across five levels of severity. Responses will be converted to an EQ-5D-5L health state index value using an appropriate validated value set. Higher index values indicate better health-related quality of life. In the intervention group, the index value will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the index value will be assessed at baseline and 12 months after baseline.

Change in self-rated health assessed using the EQ-5D-5L Visual Analogue Scale (EQ VAS). The scale ranges from 0 to 100, where 0 represents the worst health the participant can imagine and 100 represents the best health the participant can imagine. Higher scores indicate better self-rated health. In the intervention group, the score will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, the score will be assessed at baseline and 12 months after baseline.

Change in skeletal muscle mass, expressed in kilograms, assessed by bioelectrical impedance analysis using the InBody970 device. In the intervention group, skeletal muscle mass will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, skeletal muscle mass will be assessed at baseline and 12 months after baseline.

Change in body fat mass, expressed in kilograms, assessed by bioelectrical impedance analysis using the InBody970 device. In the intervention group, body fat mass will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, body fat mass will be assessed at baseline and 12 months after baseline.

Change in whole-body phase angle, expressed in degrees, assessed at 50 kHz by bioelectrical impedance analysis using the InBody970 device. In the intervention group, whole-body phase angle will be assessed at baseline, immediately after the 12-week exercise intervention, and 12 months after baseline. In the control group, whole-body phase angle will be assessed at baseline and 12 months after baseline.