Fabry Disease
Conditions
Keywords
Fabry disease, Anderson-Fabry disease, physiotherapy, exercise, exercise training, rehabilitation, physical activity, quality of life, functional capacity, muscle strength
Brief summary
This study will evaluate whether a 12-week physiotherapy and exercise program can improve physical function and quality of life in patients with Anderson-Fabry disease. Participants will complete assessments before and after the program. The intervention includes regular exercise sessions using body weight, resistance bands, and gradual increases in daily physical activity. The study is intended to determine whether a structured physiotherapy program is feasible and potentially beneficial for people living with Anderson-Fabry disease.
Detailed description
Anderson-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 the effects of structured physiotherapy and exercise interventions in this patient population remains limited. The aim of this study is to evaluate the feasibility and potential clinical benefit of a 12-week targeted physiotherapy intervention in patients with Anderson-Fabry disease. Participants will undergo baseline and post-intervention assessment focused on physical fitness, functional performance, and patient-reported outcomes. The intervention will consist of 45-minute exercise sessions performed three times per week over 12 weeks. The program will combine aerobic and strengthening exercise using body weight and resistance bands and will include a gradual increase in daily step count. Adherence to the intervention will be monitored throughout the study. The study is intended to assess whether a structured physiotherapy program may improve physical function and quality of life in patients with Anderson-Fabry disease and to provide data to support future rehabilitation recommendations in this population.
Interventions
BEHAVIORALPhysiotherapy exercise programe
A 12-week physiotherapy and exercise program consisting of 45-minute sessions performed three times per week and gradual increase in daily step count by approximately 10 percent every 2 weeks. The intervention combines aerobic and strengthening components, including body weight exercises and resistance band training, together with counting of daily steps. Adherence is monitored using exercise diaries and regular follow-up during therapy sessions.
Sponsors
General University Hospital, Prague
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
All enrolled participants will receive the same 12-week exercise intervention. Outcomes will be assessed before and after the intervention.
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Diagnosis of Anderson-Fabry disease * Age 18 years or older * Followed at a participating clinical center * Able to understand study procedures and provide informed consent * Clinically stable and considered suitable for participation in a physiotherapy and exercise program
Exclusion criteria
* Acute deterioration in health status at the time of enrollment * Medical contraindication to exercise testing or participation in the exercise program * Severe comorbidity preventing safe participation in the intervention * Inability to comply with the study procedures or complete follow-up assessments
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in cardiorespiratory fitness | Baseline and after 12 weeks | Change in cardiorespiratory fitness assessed by ergospirometry before and after the 12-week targeted physiotherapy intervention. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in muscle strength | Baseline and after 12 weeks | Change in muscle strength assessed by hand grip strength testing before and after the intervention. |
| Change in functional capacity measured by the 6-minute walk test | Baseline and after 12 weeks | Change in walking capacity assessed by the 6-minute walk test before and after the intervention. |
| Change in functional performance measured by the 30-second chair stand test | Baseline and after 12 weeks | Change in lower-extremity functional performance assessed by the 30-second chair stand test before and after the intervention. |
| Change in respiratory function | Baseline and after 12 weeks | Change in respiratory function assessed by body plethysmography before and after the intervention. |
| Change in health-related quality of life | Baseline and after 12 weeks | Change in health-related quality of life assessed by the SF-36 questionnaire before and after the intervention. |
| Change in anxiety and depressive symptoms | Baseline and after 12 weeks | Change in anxiety and depressive symptoms assessed by the Hospital Anxiety and Depression Scale (HADS) before and after the intervention. |
| Change in self-reported physical activity | Baseline and after 12 weeks | Change in self-reported physical activity assessed by the International Physical Activity Questionnaire (IPAQ)-based questionnaire before and after the intervention. |
| Change in body composition | Baseline and after 12 weeks | Change in body composition assessed by InBody analysis before and after the intervention. |
Countries
Czechia
Outcome results
None listed