An interventional study of Physiotherapy exercise programe in Fabry Disease, sponsored by General University Hospital, Prague. Recruiting at 1 site in Czechia. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-09-21.
Sponsored by General University Hospital, Prague · Not applicable, Interventional, and Treatment
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.
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.
244 studies on the registry are indexed under Fabry Disease; 55 are open to participants now.
This study's planned enrollment of 50 is above the median of 22 across 108 interventional studies indexed under Fabry Disease.
Browse Fabry Disease studies →General University Hospital, Prague is the lead sponsor of 37 studies on the registry; 23 are open to participants now.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Behavioral: Physiotherapy exercise programe
Participants will receive no study-specific exercise intervention. They will be assessed at baseline and 12 months after baseline.
A 12-week physiotherapy-led exercise programme consisting of one supervised session 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. Adherence is monitored using exercise diaries and regular follow-up during supervised sessions.
Change from baseline in peak oxygen uptake (VO2peak) after 12 weeks
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.
Time frame: Baseline and 12 weeks after baseline
Change from baseline in peak oxygen uptake (VO2peak) at 12 months
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.
Time frame: Baseline and 12 months after baseline
Change in handgrip strength
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in 6-minute walk distance
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in 30-second chair stand test performance
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in forced expiratory volume in 1 second (FEV1)
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in vital capacity (VC)
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in diffusing capacity of the lungs for carbon monoxide (DLCO)
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in Hospital Anxiety and Depression Scale - Anxiety subscale score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in Hospital Anxiety and Depression Scale - Depression subscale score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Physical Functioning domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Role Physical domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Bodily Pain domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 General Health domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Vitality domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Social Functioning domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Role Emotional domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in SF-36 Mental Health domain score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in EQ-5D-5L health state index value
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in EQ-5D-5L Visual Analogue Scale score
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in skeletal muscle mass
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in body fat mass
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Change in whole-body phase angle
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.
Time frame: Baseline, 12 weeks after baseline, and 12 months after baseline
Plan to share: No — There is currently no plan to share individual participant data. Any future data sharing would require separate consideration in accordance with applicable ethics, participant consent, and data protection requirements.
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Started Oct 2025 (actual). Primary completion is estimated for Mar 2028, 29 months after the start.
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General University Hospital, Prague